Variant #0001040772 (NC_000016.9:g.14020561G>T, NM_005236.2:c.532G>T (ERCC4))

Chromosome 16
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.14020561G>T
DNA change (hg38) -
Published as ERCC4(NM_005236.3):c.532G>T (p.(Val178Leu))
ISCN -
DB-ID ERCC4_000073
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) 0.0003 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2025-05-05 21:14:00 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
ERCC4 NM_005236.2 ?/. - c.532G>T r.(?) p.(Val178Leu) -


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