Classification

non_synonymous

CMH MAF

2 / 14969 samples (0.0134%)
2 het., 0 hom. (100%)
2 / 29938 total alleles (0.00668%)

Genes

Consequences

gene: ERCC6 synonym(s): ARMD5, CKN2, COFS, COFS1, CSB, RAD26, UVSS1, ERCC6, ENSG00000225830

NM_000124.3 [CDS] Reportable
hgvs_c: NM_000124.3:c.2297G>T
reference AA: C
variant AA: F
reference codon: tGc
variant codon: tTc
cDNA pos: 2473
CDS pos: 2297
translation impact: non_synonymous
protein sequence: NP_000115.1
AA pos: 766
hgvs_p: NP_000115.1:p.Cys766Phe
blosum: -2
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.999)

dbSNP

rs878853067

ClinVar

235562
clinvar_significance = Uncertain_significance

Export Variant

Curation