ClinVar

NM_005236.3(ERCC4):c.241G>T (p.Val81Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.12

Genomic location:

• Chr16: 13922064 (on Assembly GRCh38)
• Chr16: 14015921 (on Assembly GRCh37)

Preferred name:

NM_005236.3(ERCC4):c.241G>T (p.Val81Phe)

HGVS:

• NC_000016.10:g.13922064G>T
• NG_011442.1:g.6908G>T
• NM_005236.3:c.241G>TMANE SELECT
• NP_005227.1:p.Val81Phe
• NP_005227.1:p.Val81Phe
• LRG_463t1:c.241G>T
• LRG_463:g.6908G>T
• LRG_463p1:p.Val81Phe
• NC_000016.9:g.14015921G>T
• NM_005236.2:c.241G>T

This HGVS expression did not pass validation

Protein change:

V81F

Links:

dbSNP: rs55761944

NCBI 1000 Genomes Browser:

rs55761944

Molecular consequence:

• NM_005236.3:c.241G>T - missense variant - [Sequence Ontology: SO:0001583]