Variant #0000296763 (NC_000001.10:g.8029423G>T, PARK7(NM_007262.4):c.211G>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.8029423G>T
DNA change (hg38) g.7969363G>T
Published as PARK7(NM_007262.5):c.211G>T (p.V71F)
ISCN -
DB-ID PARK7_000031
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) Retrieve
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     
PARK7 NM_007262.4 ?/. - c.211G>T r.(?) p.(Val71Phe)