{{Rsnum
|rsid=9514067
|Gene=ERCC5
|Chromosome=13
|position=102875580
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.0005
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=BIVM-ERCC5,ERCC5
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 0.0
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 96.8 | 3.2 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 100.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=9514067
|allele=C
|frequency=
|uid=1103649319963
|type=homozygous_SNP
|hugo=ERCC5
|ensembl gene=ENSG00000134899
|ensembl transcript=ENST00000375971
|sift=TOLERATED
|disease=Defects in ERCC5 are a cause of Cockayne syndrome (CS) (MIM:216400). CS is an autosomal recessive disease which is characterized by a UV-sensitive skin (without pigmentation abnormalities), neurological dysfunction due to demyelination of neurons and calcification of basal ganglia (psychomotor retardation, deafness, optic atrophy, retinal pigmentation and hyperreflexes), and dysmorphic dwarfism (immature sexual development and microcephaly).
}}

{{ neighbor
| rsid = 17655
| distance = 72
}}

{{GET Evidence
|gene=ERCC5
|aa_change=Gly1080Arg
|aa_change_short=G1080R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs9514067
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_reviewed=Y
|nblosum100=6
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}