Variant #0000336230 (NC_000023.10:g.153660787G>A, ATP6AP1(NM_001183.4):c.539G>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.153660787G>A
DNA change (hg38) g.154432441G>A
Published as ATP6AP1(NM_001183.5):c.539G>A (p.(Arg180His))
ISCN -
DB-ID ATP6AP1_000013
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00064 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     
ATP6AP1 NM_001183.4 ?/. - c.539G>A r.(?) p.(Arg180His)
GDI1 NM_001493.2 ?/. - c.-4814G>A r.(?) p.(=)