ClinVar

NM_000400.4(ERCC2):c.1887G>C (p.Gln629His)

Gene:

ERCC2:ERCC excision repair 2, TFIIH core complex helicase subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

• Chr19: 45352761 (on Assembly GRCh38)
• Chr19: 45856019 (on Assembly GRCh37)

Preferred name:

NM_000400.4(ERCC2):c.1887G>C (p.Gln629His)

HGVS:

• NC_000019.10:g.45352761C>G
• NG_007067.2:g.22827G>C
• NM_000400.4:c.1887G>CMANE SELECT
• NP_000391.1:p.Gln629His
• NP_000391.1:p.Gln629His
• LRG_461t1:c.1887G>C
• LRG_461:g.22827G>C
• LRG_461p1:p.Gln629His
• NC_000019.9:g.45856019C>G
• NM_000400.3:c.1887G>C

This HGVS expression did not pass validation

Protein change:

Q629H

Links:

dbSNP: rs200665173

NCBI 1000 Genomes Browser:

rs200665173

Molecular consequence:

• NM_000400.4:c.1887G>C - missense variant - [Sequence Ontology: SO:0001583]