Genomic variant #0000086599

Individual ID 00056394
Chromosome 7
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.138391434C>T
DNA change (hg38) g.138706689C>T
Published as G>A (G820R)
ISCN -
DB-ID ATP6V0A4_000008
Variant remarks -
Reference PubMed: Smith 2000, Journal: Smith 2000, OMIM:var0002
ClinVar ID -
dbSNP ID rs267606671
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP6V0A4 NM_020632.2 +/. 22 c.2458G>A r.(?) p.(Gly820Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000056354 DNA SEQ - - ATP6V0A4 1 Johan den Dunnen