Variant #0000508476 (NC_000001.10:g.8045015_8045017del, PARK7(NM_007262.4):c.471_473del)

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.8045015_8045017del
DNA change (hg38) g.7984955_7984957del
Published as PARK7(NM_001123377.1):c.471_473delGCC (p.P158del), PARK7(NM_001123377.2):c.471_473delGCC (p.P158del), PARK7(NM_007262.5):c.471_473delGCC (p.P158del)
ISCN -
DB-ID PARK7_000043 See all 3 reported entries
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) 7.0E-5 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PARK7 NM_007262.4 ?/. - c.471_473del r.(?) p.(Pro158del)