All variants in the ATP6AP2 gene

Information The variants shown are described using the NM_005765.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.595C>T r.(?) p.(Arg199Cys) - VUS g.40458850C>T g.40599598C>T ATP6AP2(NM_005765.2):c.595C>T (p.R199C, p.(Arg199Cys)) - ATP6AP2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.595C>T r.(?) p.(Arg199Cys) - VUS g.40458850C>T g.40599598C>T ATP6AP2(NM_005765.2):c.595C>T (p.R199C, p.(Arg199Cys)) - ATP6AP2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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