Variant #0000659211 (NC_000023.10:g.153663679G>A, ATP6AP1(NM_001183.4):c.1031G>A)

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.153663679G>A
DNA change (hg38) g.154435333G>A
Published as ATP6AP1(NM_001183.5):c.1031G>A (p.R344H)
ISCN -
DB-ID GDI1_000022
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) 1.0E-5 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.1031G>A r.(?) p.(Arg344His)
GDI1 NM_001493.2 -?/. - c.-1922G>A r.(?) p.(=)