ClinVar

NM_000082.4(ERCC8):c.1083G>T (p.Trp361Cys)

Gene:

ERCC8:ERCC excision repair 8, CSA ubiquitin ligase complex subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q12.1

Genomic location:

• Chr5: 60887479 (on Assembly GRCh38)
• Chr5: 60183306 (on Assembly GRCh37)

Preferred name:

NM_000082.4(ERCC8):c.1083G>T (p.Trp361Cys)

HGVS:

• NC_000005.10:g.60887479C>A
• NG_009289.1:g.62600G>T
• NM_000082.4:c.1083G>TMANE SELECT
• NM_001007233.3:c.909G>T
• NM_001290285.2:c.624G>T
• NP_000073.1:p.Trp361Cys
• NP_000073.1:p.Trp361Cys
• NP_001007234.1:p.Trp303Cys
• NP_001277214.1:p.Trp208Cys
• LRG_466t1:c.1083G>T
• LRG_466:g.62600G>T
• LRG_466p1:p.Trp361Cys
• NC_000005.9:g.60183306C>A
• NM_000082.3:c.1083G>T
• Q13216:p.Trp361Cys

This HGVS expression did not pass validation

Protein change:

W208C; TRP361CYS

Links:

UniProtKB: Q13216#VAR_068177; UniProtKB/Swiss-Prot: VAR_068177; OMIM: 609412.0006; dbSNP: rs281875221

NCBI 1000 Genomes Browser:

rs281875221

Molecular consequence:

• NM_000082.4:c.1083G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001007233.3:c.909G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290285.2:c.624G>T - missense variant - [Sequence Ontology: SO:0001583]