All transcript 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.

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

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     
-/. - c.-6C>G benign r.(?) p.(=) g.58227390C>G - CA4(NM_000717.3):c.-6C>G - CA4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.40C>T VUS r.(?) p.(Arg14Trp) g.58227435C>T - CA4(NM_000717.3):c.40C>T (p.Arg14Trp) - CA4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.58+18G>C likely benign r.(=) p.(=) g.58227471G>C - CA4(NM_000717.3):c.58+18G>C - CA4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.168C>T benign r.(?) p.(=) g.58233976C>T - CA4(NM_000717.3):c.168C>T (p.=) - CA4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.204A>G benign r.(?) p.(=) g.58234012A>G - CA4(NM_000717.4):c.204A>G (p.G68=) - CA4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.206G>A VUS r.(?) p.(Arg69His) g.58234014G>A - - - CA4_000014 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs121434552 Germline - 1/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
?/. - c.209T>G VUS r.(?) p.(Phe70Cys) g.58234017T>G - CA4(NM_000717.4):c.209T>G (p.F70C) - CA4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.254A>C VUS r.(?) p.(Asn85Thr) g.58234062A>C - CA4(NM_000717.3):c.254A>C (p.N85T) - CA4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.258C>T benign r.(?) p.(=) g.58234066C>T - CA4(NM_000717.3):c.258C>T (p.=) - CA4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.259G>A likely benign r.(?) p.(Gly87Arg) g.58234067G>A - CA4(NM_000717.3):c.259G>A (p.G87R) - CA4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.375C>T likely benign r.(?) p.(=) g.58234894C>T - CA4(NM_000717.4):c.375C>T (p.G125=) - CA4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.415A>T VUS r.(?) p.(Met139Leu) g.58235051A>T - - - CA4_000015 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs185658468 Germline - 6/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
-/. - c.492G>A benign r.(?) p.(=) g.58235128G>A - CA4(NM_000717.3):c.492G>A (p.=) - CA4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.531C>A benign r.(?) p.(Asn177Lys) g.58235439C>A - - - CA4_000016 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs185942554 Germline - 8/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
?/. - c.532G>A VUS r.(?) p.(Glu178Lys) g.58235440G>A - CA4(NM_000717.3):c.532G>A (p.E178K) - CA4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.580+19G>A benign r.(=) p.(=) g.58235507G>A - CA4(NM_000717.3):c.580+19G>A - CA4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.661C>T benign r.(?) p.(=) g.58235724C>T - CA4(NM_000717.3):c.661C>T (p.=) - CA4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 7 c.700G>A - r.(?) p.(Val234Ile) g.58235763G>A g.60158402G>A - - CA4_000001 predicted benign PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling
-/. 7 c.700G>A - r.(?) p.(Val234Ile) g.58235763G>A g.60158402G>A - - CA4_000001 predicted benign PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling
-/. 7 c.700G>A - r.(?) p.(Val234Ile) g.58235763G>A g.60158402G>A - - CA4_000001 predicted benign PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling
-/. 7 c.700G>A - r.(?) p.(Val234Ile) g.58235763G>A g.60158402G>A - - CA4_000001 predicted benign PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling
-/. - c.744+3G>A benign r.spl? p.? g.58235810G>A - CA4(NM_000717.3):c.744+3G>A - CA4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.745-5C>T VUS r.spl? p.? g.58236586C>T - - - CA4_000017 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs549334435 Germline - 2/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
?/. - c.787A>G VUS r.(?) p.(Thr263Ala) g.58236633A>G - - - CA4_000018 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 3/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
?/. - c.788C>G VUS r.(?) p.(Thr263Arg) g.58236634C>G - - - CA4_000019 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
?/. - c.800A>G VUS r.(?) p.(Lys267Arg) g.58236646A>G - - - CA4_000020 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs187221698 Germline - 2/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
?/. - c.802G>A VUS r.(?) p.(Asp268Asn) g.58236648G>A - - - CA4_000021 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
?/. - c.806A>T VUS r.(?) p.(Asn269Ile) g.58236652A>T - CA4(NM_000717.3):c.806A>T (p.N269I) - CA4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.807T>C benign r.(?) p.(=) g.58236653T>C - CA4(NM_000717.3):c.807T>C (p.=) - CA4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. 8 c.869C>T - r.(?) p.(Pro290Leu) g.58236715C>T g.60159354C>T - - CA4_000002 predicted benign PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling
+/. - c.937T>C pathogenic r.(?) p.(*313Argext*?) g.58236783T>C - - - CA4_000022 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
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