Variant #0000574882 (NC_000023.10:g.153663810A>C, ATP6AP1(NM_001183.4):c.1162A>C)

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.153663810A>C
DNA change (hg38) g.154435464A>C
Published as ATP6AP1(NM_001183.5):c.1162A>C (p.T388P)
ISCN -
DB-ID GDI1_000015
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) 0.00162 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP6AP1 NM_001183.4 -/. - c.1162A>C r.(?) p.(Thr388Pro)
GDI1 NM_001493.2 -/. - c.-1791A>C r.(?) p.(=)