Full data view for 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.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-6C>G benign r.(=) p.(=) Unknown g.58227390C>G - CA4:c.-6C>G - CA4_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.40C>T VUS r.(?) p.(Arg14Trp) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.58+18G>C likely benign r.(=) p.(=) Unknown g.58227471G>C - CA4:c.58+18G>C - CA4_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.168C>T benign r.(=) p.(=) Unknown g.58233976C>T - CA4:c.168C>T (=) - CA4_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.204A>G benign r.(=) p.(=) Unknown g.58234012A>G - CA4:c.204A>G (G68=) - CA4_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.209T>G VUS r.(?) p.(Phe70Cys) Unknown g.58234017T>G - CA4:c.209T>G (F70C) - CA4_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.258C>T benign r.(=) p.(=) Unknown g.58234066C>T - CA4:c.258C>T (=) - CA4_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.259G>A likely benign r.(?) p.(Gly87Arg) Unknown g.58234067G>A - CA4:c.259G>A (G87R) - CA4_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.492G>A benign r.(=) p.(=) Unknown g.58235128G>A - CA4:c.492G>A (=) - CA4_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.580+19G>A benign r.(=) p.(=) Unknown g.58235507G>A - CA4:c.580+19G>A - CA4_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 7 c.700G>A - r.(?) p.(Val234Ile) Parent #1 g.58235763G>A g.60158402G>A - - CA4_000001 predicted benign PubMed: Neveling 2012 - - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - RP - - - M - - - - 0 - - 1 Kornelia Neveling
-/. 7 c.700G>A - r.(?) p.(Val234Ile) Parent #1 g.58235763G>A g.60158402G>A - - CA4_000001 predicted benign PubMed: Neveling 2012 - - Germline no - - 0 - DNA SEQ, SEQ-NG-S - - RP - - - F - - - - 0 - - 1 Kornelia Neveling
-/. 7 c.700G>A - r.(?) p.(Val234Ile) Parent #1 g.58235763G>A g.60158402G>A - - CA4_000001 predicted benign PubMed: Neveling 2012 - - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - RP - - - F - - - - 0 - - 1 Kornelia Neveling
-/. 7 c.700G>A - r.(?) p.(Val234Ile) Parent #1 g.58235763G>A g.60158402G>A - - CA4_000001 predicted benign PubMed: Neveling 2012 - - Germline - - - 0 - DNA SEQ, SEQ-NG-S - - RP - - - F - - - - 0 - - 1 Kornelia Neveling
-/. - c.807T>C benign r.(=) p.(=) Unknown g.58236653T>C - CA4:c.807T>C (=) - CA4_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 8 c.869C>T - r.(?) p.(Pro290Leu) Parent #1 g.58236715C>T g.60159354C>T - - CA4_000002 predicted benign PubMed: Neveling 2012 - - Germline no - - 0 - DNA SEQ, SEQ-NG-S - - RP - - - F - - - - 0 - - 1 Kornelia Neveling
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