Full data view for gene CA5A

Information The variants shown are described using the NM_001739.1 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

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Panel size     

Owner     
./. - c.-699297_*602285del r.0? p.0? Unknown - pathogenic g.87319450_88669353del - - - BANP_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.65C>T r.(?) p.(Pro22Leu) Unknown - likely benign g.87969992G>A - CA5A(NM_001367225.1):c.65C>T (p.P22L) - CA5A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.143-9T>A r.(=) p.(=) Unknown - benign g.87960560A>T g.87926954A>T CA5A(NM_001739.2):c.143-9T>A - CA5A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.168C>T r.(?) p.(Val56=) Unknown - likely benign g.87960526G>A - CA5A(NM_001367225.1):c.168C>T (p.V56=) - CA5A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.287G>C r.(?) p.(Trp96Ser) Unknown - VUS g.87960407C>G g.87926801C>G CA5A(NM_001739.2):c.287G>C (p.W96S, p.(Trp96Ser)) - CA5A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.287G>C r.(?) p.(Trp96Ser) Unknown - VUS g.87960407C>G - CA5A(NM_001739.2):c.287G>C (p.W96S, p.(Trp96Ser)) - CA5A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.453C>T r.(?) p.(Pro151=) Unknown - benign g.87938398G>A g.87904792G>A CA5A(NM_001739.2):c.453C>T (p.P151=) - CA5A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+ 4 c.555G>A r.460_555del p.Leu154_Lys185del Both (homozygous) - likely pathogenic g.87936031C>T g.87902425C>T - - CA5A_000001 Lead to skipping of exon 4 PubMed: van Karnebeek 2014 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-I Fibroblast - CA5AD - PubMed: van Karnebeek 2014 2-generation family, 1 affectd, unaffected heterozygous carrier parents M no Russian Federation - - - - - 1 Clara van Karnebeek
+/+ 6 c.619-3420_774+502del r.(del) p.(Asp207_Gln258del) Both (homozygous) - pathogenic g.87924924_87929001del g.87891318_87895395del - - CA5A_000002 4078 bp deletion of exon 6 PubMed: van Karnebeek 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG-I Fibroblast - CA5AD - PubMed: van Karnebeek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents and 2 sisters, possible affected brother not available for analysis M yes Pakistan - - - - - 1 Clara van Karnebeek
-/. - c.645C>T r.(?) p.(Phe215=) Unknown - benign g.87925534G>A g.87891928G>A CA5A(NM_001739.2):c.645C>T (p.F215=) - CA5A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.664C>T r.(?) p.(Pro222Ser) Unknown - VUS g.87925515G>A - CA5A(NM_001367225.1):c.664C>T (p.P222S) - CA5A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.697T>C r.(?) p.(Ser233Pro) Both (homozygous) - pathogenic g.87925482A>G g.87891876A>G - - CA5A_000003 homozygous recessive in affected individuals, inherited from heterozygous parents PubMed: van Karnebeek 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG-I - - CA5AD - PubMed: van Karnebeek 2014 2-generation family, 2 affecteds (sister/brother), unaffected heterozygous carrier parents and sister F no Canada white >06y - - - 1 Clara van Karnebeek
?/. - c.710C>T r.(?) p.(Pro237Leu) Unknown - VUS g.87925469G>A g.87891863G>A CA5A(NM_001367225.1):c.710C>T (p.P237L) - CA5A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.721G>A r.(?) p.(Glu241Lys) Unknown - pathogenic g.87925458C>T - CA5A(NM_001739.2):c.721G>A (p.(Glu241Lys)) - CA5A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.749A>G r.(?) p.(Glu250Gly) Unknown - VUS g.87925430T>C - CA5A(NM_001739.2):c.749A>G (p.E250G) - CA5A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.788G>A r.(?) p.(Arg263His) Unknown - likely benign g.87921865C>T g.87888259C>T CA5A(NM_001739.2):c.788G>A (p.(Arg263His)) - CA5A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.807A>T r.(?) p.(Ala269=) Unknown - benign g.87921846T>A g.87888240T>A CA5A(NM_001739.2):c.807A>T (p.A269=) - CA5A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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