ClinVar

NM_000122.2(ERCC3):c.1960G>A (p.Glu654Lys)

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: 127261332 (on Assembly GRCh38)
• Chr2: 128018908 (on Assembly GRCh37)

Preferred name:

NM_000122.2(ERCC3):c.1960G>A (p.Glu654Lys)

HGVS:

• NC_000002.12:g.127261332C>T
• NG_007454.1:g.37845G>A
• NM_000122.2:c.1960G>AMANE SELECT
• NM_001303416.2:c.1768G>A
• NM_001303418.2:c.1768G>A
• NP_000113.1:p.Glu654Lys
• NP_001290345.1:p.Glu590Lys
• NP_001290347.1:p.Glu590Lys
• LRG_462t1:c.1960G>A
• LRG_462:g.37845G>A
• NC_000002.11:g.128018908C>T
• NM_000122.1:c.1960G>A

This HGVS expression did not pass validation

Protein change:

E590K

Links:

dbSNP: rs568193912

NCBI 1000 Genomes Browser:

rs568193912

Molecular consequence:

• NM_000122.2:c.1960G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001303416.2:c.1768G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001303418.2:c.1768G>A - missense variant - [Sequence Ontology: SO:0001583]