Full data view for gene GALNT12

Information The variants shown are described using the NM_024642.4 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

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Variant remarks     

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Geographic origin     

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Pedigree information available     

Selection criteria for proband testing     

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?/? 1 c.237C>T r.(?) p.(=) Maternal (inferred) g.101570217C>T - - GALNT12_000012 - - Germline (inherited) - - DNA SEQ - - Lynch Syndrome - - - - - - - - 1 Laura Valle
+?/. - c.303C>G r.(?) p.(His101Gln) Unknown g.101570283C>G - - GALNT12_000018 - - Germline (inherited) - - DNA SEQ - Sanger sequencing cancer, colon - - Newfoundland & Labrador - Population-based study of incident CRC cases CRC Yes incident cases 1 Daniel Evans
?/? 1 c.356A>T r.(?) p.(Glu119Val) Unknown g.101570336A>T - {dbSNP10987769} GALNT12_000010 0.018 - Germline (inherited) - - DNA SEQ - - CRC - ? CA - - - - - 1 Michael Woods
?/? 2 c.399T>C r.(?) p.(=) Unknown g.101585565T>C - - GALNT12_000014 1/206 - Germline (inherited) - - DNA SEQ - - Lynch Syndrome - - - - - - - - 1 Laura Valle
+*/. - c.425T>C r.(?) p.(Ile142Thr) Unknown g.101585591T>C - - GALNT12_000019 - - Germline (inherited) - - DNA SEQ - Sanger cancer, colon - - Newfoundland & Labrador - Populationed-based incident CRC screening study CRC Yes - 1 Daniel Evans
-?/. - c.715G>C r.(?) p.(Glu239Gln) Unknown g.101589207G>C - - GALNT12_000020 - - Germline (inherited) - - DNA SEQ - Sanger cancer, colon - - Newfoundland & Labrador - Population-based incident CRC screening study CRC Yes incident cases 479 Daniel Evans
?/. - c.732-8G>T r.(=) p.(=) Unknown g.98831764G>T - - GALNT12_000021 - - Germline (inherited) - - DNA SEQ - Sanger cancer, duodenal - - Newfoundland & Labrador - Population-based incident CRC cohort CRC Yes - 479 Daniel Evans
?/? 4 c.781G>A r.(?) p.(Asp261Asn) Unknown g.101594103G>A - {dbSNP41306504} GALNT12_000004 0.015 - Germline (inherited) - - DNA SEQ - - CRC - - CA - - - - - 1 Michael Woods
?/? 4 c.781G>A r.(?) p.(Asp261Asn) Unknown g.101594103G>A - {dbSNP41306504} GALNT12_000004 2/206 - Germline (inherited) - - DNA SEQ - - Lynch Syndrome - - - - - - - - 1 Laura Valle
?/? 4 c.781G>A r.(?) p.(Asp261Asn) Unknown g.101594103G>A - {dbSNP41306504} GALNT12_000004 2/206 - Germline (inherited) - - DNA SEQ - - Lynch Syndrome - - - - - - - - 1 Laura Valle
-?/. - c.857C>T r.(?) p.(Thr286Met) Unknown g.101594179C>T - - GALNT12_000022 - - Germline (inherited) - - DNA SEQ - Sanger cancer, colon - - Newfoundland & Labrador - Population-based incident screening CRC study - - incident cases 479 Daniel Evans
+?/. - c.868G>T r.(?) p.(Val290Phe) Unknown g.101594190G>T - - GALNT12_000023 - - Germline (inherited) - - DNA SEQ - Sanger cancer, colon - - Newfoundland & Labrador - Population-based incident CRC screening CRC Yes - 479 Daniel Evans
+?/. - c.889C>T r.(?) p.(Arg297Trp) Unknown g.101594211C>T - - GALNT12_000024 - - Germline (inherited) - - DNA SEQ - Sanger cancer, colon - - Newfoundland & Labrador - Population-based incident CRC screening study CRC Yes - 479 Daniel Evans
+/? 4 c.907G>A r.(?) p.(Asp303Asn) Unknown g.101594229G>A - - GALNT12_000001 - polyphen:probably damaging; SIFT: Not tolerated Germline (inherited) - - DNA SEQ - - cancer, rectal - ? CA - - Bethesda positive - - 1 Michael Woods
+/? 4 c.907G>A r.(?) p.(Asp303Asn) Unknown g.101594229G>A - - GALNT12_000001 - polyphen:probably damaging; SIFT: Not tolerated Germline (inherited) - - DNA SEQ - - cancer, rectal - F CA - - Bethesda positive - - 1 Michael Woods
+/? 4 c.907G>A r.(?) p.(Asp303Asn) Unknown g.101594229G>A - - GALNT12_000001 - polyphen:probably damaging; SIFT: Not tolerated Germline (inherited) - - DNA SEQ - - CRC - M CA - DNA was not available from two CRC affected sisters of the proband, although a son of one of them had CRC at age 57 years but did not carry the variant. Bethesda positive - - 1 Michael Woods
+/? 4 c.907G>A r.(?) p.(Asp303Asn) Unknown g.101594229G>A - - GALNT12_000001 - polyphen:probably damaging; SIFT: Not tolerated Germline (inherited) - - DNA SEQ - - CRC - F CA - - Bethesda positive - - 1 Michael Woods
+/? 4 c.907G>A r.(?) p.(Asp303Asn) Unknown g.101594229G>A - - GALNT12_000001 - polyphen:probably damaging; SIFT: Not tolerated Germline (inherited) - - DNA SEQ - - polyps - M CA - - Bethesda positive - - 1 Michael Woods
+/? 4 c.907G>A r.(?) p.(Asp303Asn) Unknown g.101594229G>A - - GALNT12_000001 - polyphen:probably damaging; SIFT: Not tolerated Germline (inherited) - - DNA SEQ - - polyps - F CA - - Bethesda positive - - 1 Michael Woods
+/? 4 c.907G>A r.(?) p.(Asp303Asn) Unknown g.101594229G>A - - GALNT12_000001 - polyphen:probably damaging; SIFT: Not tolerated Germline (inherited) - - DNA SEQ - - polyps - M CA - - Bethesda positive - - 1 Michael Woods
+/? 4 c.907G>A r.(?) p.(Asp303Asn) Unknown g.101594229G>A - - GALNT12_000001 - polyphen:probably damaging; SIFT: Not tolerated Germline (inherited) - - DNA SEQ - - polyps - M CA - - Bethesda positive - - 1 Michael Woods
+/? 4 c.907G>A r.(?) p.(Asp303Asn) Unknown g.101594229G>A - - GALNT12_000001 - polyphen:probably damaging; SIFT: Not tolerated Germline (inherited) - - DNA SEQ - - cancer, rectal - F CA - DNA was not available from two CRC affected sisters of the proband, although a son of one of them had CRC at age 57 years but did not carry the variant. Bethesda positive - - 1 Michael Woods
+/? 4 c.907G>A r.(?) p.(Asp303Asn) Unknown g.101594229G>A - - GALNT12_000001 - polyphen:probably damaging; SIFT: Not tolerated Germline (inherited) - - DNA SEQ - - polyps - M CA - DNA was not available from two CRC affected sisters of the proband, although a son of one of them had CRC at age 57 years but did not carry the variant. Bethesda positive - - 1 Michael Woods
-?/. - c.907G>A r.(?) p.(Asp303Asn) Unknown g.101594229G>A - - GALNT12_000001 - - Germline (inherited) - - DNA SEQ - Sanger cancer, colon - - Newfoundland & Labrador - Population-based incident CRC screening study CRC Yes - 479 Daniel Evans
-?/? 5i c.1036-4G>A r.(?) p.(=) Paternal (inferred) g.101599250G>A - - GALNT12_000011 1/206 - Germline (inherited) - - DNA SEQ - - Lynch Syndrome - - - - - - - - 1 Laura Valle
+/? 6 c.1187A>G r.(?) p.(Tyr396Cys) Unknown g.101599405A>G - - GALNT12_000002 - polyphen:probably damaging; SIFT: Not tolerated Germline (inherited) - - DNA SEQ - - CRC - - CA - - Bethesda positive - - 1 Michael Woods
?/? 8 c.1392C>T r.(?) p.(=) Unknown g.101606425C>T - {dbSNP35616709} GALNT12_000013 1/206 - Germline (inherited) - - DNA SEQ - - Lynch Syndrome - - - - - - - - 1 Laura Valle
?/? 9 c.1497C>T r.(?) p.(=) Unknown g.101608297C>T - {dbSNP35632007} GALNT12_000005 0.008 - Germline (inherited) - - DNA SEQ - - CRC - - CA - - - - - 1 Michael Woods
?/? 9 c.1497C>T r.(?) p.(=) Unknown g.101608297C>T - {dbSNP35632007} GALNT12_000005 1/206 - Germline (inherited) - - DNA SEQ - - Lynch Syndrome - - - - - - - - 1 Laura Valle
?/? 9i c.1605+4G>A r.spl? p.? Unknown g.101608409G>A - {dbSNP79574929} GALNT12_000015 1/206 - Germline (inherited) - - DNA SEQ - - Lynch Syndrome - - - - - - - - 1 Laura Valle
?/? 10 c.1707G>C r.(?) p.(=) Unknown g.101611335G>C - {dbSNP2273846} GALNT12_000006 0.043 - Germline (inherited) - - DNA SEQ - - CRC - - CA - - - - - 1 Michael Woods
?/? 10 c.1734G>A r.(?) p.(=) Unknown g.101611362G>A - - GALNT12_000007 0.016 - Germline (inherited) - - DNA SEQ - - CRC - - CA - - - - - 1 Michael Woods
?/? 10 c.*171A>G r.(?) p.(=) Unknown g.101611545A>G - - GALNT12_000008 0.031 - Germline (inherited) - - DNA SEQ - - CRC - - CA - - - - - 1 Michael Woods
?/? 10 c.*421G>A r.(?) p.(=) Unknown g.101611795G>A - {dbSNP2273848} GALNT12_000009 0.088 - Germline (inherited) - - DNA SEQ - - CRC - - CA - - - - - 1 Michael Woods
?/? 10i c.*499T>A r.(?) p.(=) Unknown g.101611873T>A - - GALNT12_000016 1/206 - Germline (inherited) - - DNA SEQ - - Lynch Syndrome - - - - - - - - 1 Laura Valle
?/? 10i c.*547dup r.(?) p.(=) Unknown g.101611921dup - - GALNT12_000017 1/206 - Germline (inherited) - - DNA SEQ - - Lynch Syndrome - - - - - - - - 1 Laura Valle
Legend