Variant #0000574881 (NC_000023.10:g.153663684G>A, ATP6AP1(NM_001183.4):c.1036G>A)

Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.153663684G>A
DNA change (hg38) g.154435338G>A
Published as -
ISCN -
DB-ID GDI1_000014
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_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP6AP1 NM_001183.4 +?/. - c.1036G>A r.(?) p.(Glu346Lys)
GDI1 NM_001493.2 +?/. - c.-1917G>A r.(?) p.(=)