Variant #0000623368 (NC_000016.9:g.14029516G>C, ERCC4(NM_005236.2):c.1727G>C)

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.14029516G>C
DNA change (hg38) g.13935659G>C
Published as ERCC4(NM_005236.2):c.1727G>C (p.R576T), ERCC4(NM_005236.3):c.1727G>C (p.R576T)
ISCN -
DB-ID ERCC4_000038 See all 2 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) 0.00069 View details
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     

Haplotype     
ERCC4 NM_005236.2 ?/. - c.1727G>C r.(?) p.(Arg576Thr) -