All variants in the C1GALT1C1 gene

Information The variants shown are described using the NM_152692.4 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. - c.70A>G r.(?) p.(Met24Val) - benign g.119760952T>C g.120627097T>C C1GALT1C1(NM_152692.4):c.70A>G (p.M24V) - C1GALT1C1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.107T>G r.(?) p.(Met36Arg) - likely benign g.119760915A>C g.120627060A>C C1GALT1C1(NM_152692.4):c.107T>G (p.M36R) - C1GALT1C1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.144C>T r.(?) p.(Asn48=) - likely benign g.119760878G>A - C1GALT1C1(NM_152692.4):c.144C>T (p.N48=) - C1GALT1C1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.302G>A r.(?) p.(Ser101Asn) - benign g.119760720C>T g.120626865C>T C1GALT1C1(NM_152692.4):c.302G>A (p.S101N) - C1GALT1C1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. 3 c.393T>A r.(?) p.(Asp131Glu) - VUS g.119760629A>T g.120626774A>T D131E - C1GALT1C1_000005 recurrent, found 36 times PubMed: Tarpey 2009 - - Germline - 36/208 cases - 0 - Lucy Raymond
?/. 3 c.428C>T r.(?) p.(Ala143Val) - VUS g.119760594G>A g.120626739G>A A143V - C1GALT1C1_000004 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
Legend   How to query