Variant #0000619548 (NC_000023.10:g.40464822G>C, ATP6AP2(NM_005765.2):c.868G>C)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.40464822G>C
DNA change (hg38) g.40605570G>C
Published as ATP6AP2(NM_005765.2):c.868G>C (p.(Ala290Pro)), ATP6AP2(NM_005765.3):c.868G>C (p.A290P)
ISCN -
DB-ID ATP6AP2_000022 See all 2 reported entries
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) 0.00518 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP6AP2 NM_005765.2 -?/. - c.868G>C r.(?) p.(Ala290Pro)