ClinVar

NM_000122.2(ERCC3):c.2105C>T (p.Ala702Val)

Gene:

ERCC3:ERCC excision repair 3, TFIIH core complex helicase subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q14.3

Genomic location:

• Chr2: 127259408 (on Assembly GRCh38)
• Chr2: 128016984 (on Assembly GRCh37)

Preferred name:

NM_000122.2(ERCC3):c.2105C>T (p.Ala702Val)

HGVS:

• NC_000002.12:g.127259408G>A
• NG_007454.1:g.39769C>T
• NM_000122.2:c.2105C>TMANE SELECT
• NM_001303416.2:c.1913C>T
• NM_001303418.2:c.1913C>T
• NP_000113.1:p.Ala702Val
• NP_000113.1:p.Ala702Val
• NP_001290345.1:p.Ala638Val
• NP_001290347.1:p.Ala638Val
• LRG_462t1:c.2105C>T
• LRG_462:g.39769C>T
• LRG_462p1:p.Ala702Val
• NC_000002.11:g.128016984G>A
• NM_000122.1:c.2105C>T

This HGVS expression did not pass validation

Protein change:

A638V

Links:

dbSNP: rs563550613

NCBI 1000 Genomes Browser:

rs563550613

Molecular consequence:

• NM_000122.2:c.2105C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001303416.2:c.1913C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001303418.2:c.1913C>T - missense variant - [Sequence Ontology: SO:0001583]