Variant #0000575913 (NC_000023.10:g.40458873T>A, ATP6AP2(NM_005765.2):c.618T>A)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.40458873T>A
DNA change (hg38) g.40599621T>A
Published as ATP6AP2(NM_005765.2):c.618T>A (p.D206E)
ISCN -
DB-ID ATP6AP2_000032
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP6AP2 NM_005765.2 ?/. - c.618T>A r.(?) p.(Asp206Glu)