Variant #0000281020 (NC_000023.10:g.153667176T>C, ATP6AP1(NM_001183.4):c.*2939T>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.153667176T>C
DNA change (hg38) g.154438830T>C
Published as GDI1(NM_001493.3):c.219T>C (p.N73=)
ISCN -
DB-ID GDI1_000008
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) 0.17898 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP6AP1 NM_001183.4 -/. - c.*2939T>C r.(=) p.(=)
GDI1 NM_001493.2 -/. - c.219T>C r.(?) p.(Asn73=)