Variant #0000574886 (NC_000023.10:g.153668830C>T, ATP6AP1(NM_001183.4):c.*4593C>T)

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.153668830C>T
DNA change (hg38) g.154440483C>T
Published as GDI1(NM_001493.3):c.696C>T (p.G232=)
ISCN -
DB-ID GDI1_000017
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) 0.00012 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP6AP1 NM_001183.4 -?/. - c.*4593C>T r.(=) p.(=)
GDI1 NM_001493.2 -?/. - c.696C>T r.(?) p.(Gly232=)
FAM50A NM_004699.3 -?/. - c.-3753C>T r.(?) p.(=)