Variant #0000717708 (NC_000001.10:g.8029446C>T, PARK7(NM_007262.4):c.234C>T)

Chromosome 1
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.8029446C>T
DNA change (hg38) -
Published as PARK7(NM_001123377.1):c.234C>T (p.G78=), PARK7(NM_001123377.2):c.234C>T (p.G78=), PARK7(NM_007262.5):c.234C>T (p.G78=)
ISCN -
DB-ID PARK7_000008 See all 5 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) 0.00835 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 2021-02-08 18:36:18 +01:00 (CET)
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.234C>T r.(?) p.(Gly78=)