Unique variants in gene GALNT12

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

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Owner     
?/? 1 1 c.237C>T r.(?) p.(=) g.101570217C>T - - GALNT12_000012 - - Germline (inherited) - Laura Valle
+?/. 1 - c.303C>G r.(?) p.(His101Gln) g.101570283C>G - - GALNT12_000018 - - Germline (inherited) - Daniel Evans
?/? 1 1 c.356A>T r.(?) p.(Glu119Val) g.101570336A>T - {dbSNP10987769} GALNT12_000010 0.018 - Germline (inherited) - Michael Woods
?/? 1 2 c.399T>C r.(?) p.(=) g.101585565T>C - - GALNT12_000014 1/206 - Germline (inherited) - Laura Valle
+*/. 1 - c.425T>C r.(?) p.(Ile142Thr) g.101585591T>C - - GALNT12_000019 - - Germline (inherited) - Daniel Evans
-?/. 1 - c.715G>C r.(?) p.(Glu239Gln) g.101589207G>C - - GALNT12_000020 - - Germline (inherited) - Daniel Evans
?/. 1 - c.732-8G>T r.(=) p.(=) g.98831764G>T - - GALNT12_000021 - - Germline (inherited) - Daniel Evans
?/? 3 4 c.781G>A r.(?) p.(Asp261Asn) g.101594103G>A - {dbSNP41306504} GALNT12_000004 0.015, 2/206 - Germline (inherited) - Michael Woods, Laura Valle
-?/. 1 - c.857C>T r.(?) p.(Thr286Met) g.101594179C>T - - GALNT12_000022 - - Germline (inherited) - Daniel Evans
+?/. 1 - c.868G>T r.(?) p.(Val290Phe) g.101594190G>T - - GALNT12_000023 - - Germline (inherited) - Daniel Evans
+?/. 1 - c.889C>T r.(?) p.(Arg297Trp) g.101594211C>T - - GALNT12_000024 - - Germline (inherited) - Daniel Evans
-?/., +/? 11 4 c.907G>A r.(?) p.(Asp303Asn) g.101594229G>A - - GALNT12_000001 - polyphen:probably damaging; SIFT: Not tolerated Germline (inherited) - Daniel Evans, Michael Woods
-?/? 1 5i c.1036-4G>A r.(?) p.(=) g.101599250G>A - - GALNT12_000011 1/206 - Germline (inherited) - Laura Valle
+/? 1 6 c.1187A>G r.(?) p.(Tyr396Cys) g.101599405A>G - - GALNT12_000002 - polyphen:probably damaging; SIFT: Not tolerated Germline (inherited) - Michael Woods
?/? 1 8 c.1392C>T r.(?) p.(=) g.101606425C>T - {dbSNP35616709} GALNT12_000013 1/206 - Germline (inherited) - Laura Valle
?/? 2 9 c.1497C>T r.(?) p.(=) g.101608297C>T - {dbSNP35632007} GALNT12_000005 0.008, 1/206 - Germline (inherited) - Michael Woods, Laura Valle
?/? 1 9i c.1605+4G>A r.spl? p.? g.101608409G>A - {dbSNP79574929} GALNT12_000015 1/206 - Germline (inherited) - Laura Valle
?/? 1 10 c.1707G>C r.(?) p.(=) g.101611335G>C - {dbSNP2273846} GALNT12_000006 0.043 - Germline (inherited) - Michael Woods
?/? 1 10 c.1734G>A r.(?) p.(=) g.101611362G>A - - GALNT12_000007 0.016 - Germline (inherited) - Michael Woods
?/? 1 10 c.*171A>G r.(?) p.(=) g.101611545A>G - - GALNT12_000008 0.031 - Germline (inherited) - Michael Woods
?/? 1 10 c.*421G>A r.(?) p.(=) g.101611795G>A - {dbSNP2273848} GALNT12_000009 0.088 - Germline (inherited) - Michael Woods
?/? 1 10i c.*499T>A r.(?) p.(=) g.101611873T>A - - GALNT12_000016 1/206 - Germline (inherited) - Laura Valle
?/? 1 10i c.*547dup r.(?) p.(=) g.101611921dup - - GALNT12_000017 1/206 - Germline (inherited) - Laura Valle
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