Unique variants in gene CA4

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000717.3 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-/. 1 - c.-6C>G benign r.(=) p.(=) g.58227390C>G - CA4:c.-6C>G - CA4_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.40C>T VUS r.(?) p.(Arg14Trp) g.58227435C>T - CA4:NM_000717.3:c.40C>T (Arg14Trp) - CA4_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.58+18G>C likely benign r.(=) p.(=) g.58227471G>C - CA4:c.58+18G>C - CA4_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.168C>T benign r.(=) p.(=) g.58233976C>T - CA4:c.168C>T (=) - CA4_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.204A>G benign r.(=) p.(=) g.58234012A>G - CA4:c.204A>G (G68=) - CA4_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.209T>G VUS r.(?) p.(Phe70Cys) g.58234017T>G - CA4:c.209T>G (F70C) - CA4_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.258C>T benign r.(=) p.(=) g.58234066C>T - CA4:c.258C>T (=) - CA4_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.259G>A likely benign r.(?) p.(Gly87Arg) g.58234067G>A - CA4:c.259G>A (G87R) - CA4_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.492G>A benign r.(=) p.(=) g.58235128G>A - CA4:c.492G>A (=) - CA4_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.580+19G>A benign r.(=) p.(=) g.58235507G>A - CA4:c.580+19G>A - CA4_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 4 7 c.700G>A - r.(?) p.(Val234Ile) g.58235763G>A g.60158402G>A - - CA4_000001 predicted benign PubMed: Neveling 2012 - - Germline no - - - - Kornelia Neveling
-/. 1 - c.807T>C benign r.(=) p.(=) g.58236653T>C - CA4:c.807T>C (=) - CA4_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 8 c.869C>T - r.(?) p.(Pro290Leu) g.58236715C>T g.60159354C>T - - CA4_000002 predicted benign PubMed: Neveling 2012 - - Germline no - - - - Kornelia Neveling
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