View ERCC1 gene homepage

General information
Gene symbol ERCC1
Gene name excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)
Chromosome 19
Chromosomal band q13.32
Imprinted Unknown
Genomic reference NG_015839.2
Transcript reference NM_001983.3
Associated with diseases COFS-4, ID
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Date created May 03, 2013

Links to other resources
HGNC 3433
Entrez Gene 2067
PubMed articles ERCC1
OMIM - Gene 126380
OMIM - Diseases COFS-4 (cerebrooculofacioskeletal syndrome, type 4 (COFS-4)

Active transcripts




NCBI ID     

NCBI Protein ID     

00007205 19 transcript variant 2 NM_001983.3 NP_001974.1 0