ClinVar

NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)

Gene:

ERCC4:ERCC excision repair 4, endonuclease catalytic subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.12

Genomic location:

• Chr16: 13947991 (on Assembly GRCh38)
• Chr16: 14041848 (on Assembly GRCh37)

Preferred name:

NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)

Other names:

R788W

HGVS:

• NC_000016.10:g.13947991C>T
• NG_011442.1:g.32835C>T
• NM_005236.3:c.2395C>TMANE SELECT
• NP_005227.1:p.Arg799Trp
• NP_005227.1:p.Arg799Trp
• LRG_463t1:c.2395C>T
• LRG_463:g.32835C>T
• LRG_463p1:p.Arg799Trp
• NC_000016.9:g.14041848C>T
• NM_005236.2:c.2395C>T
• Q92889:p.Arg799Trp
• p.R799W

This HGVS expression did not pass validation

Protein change:

R799W; ARG788TRP

Links:

UniProtKB: Q92889#VAR_005850; OMIM: 133520.0002; OMIM: 133520.0011; dbSNP: rs121913049

NCBI 1000 Genomes Browser:

rs121913049

Molecular consequence:

• NM_005236.3:c.2395C>T - missense variant - [Sequence Ontology: SO:0001583]