ClinVar

NM_000400.4(ERCC2):c.2189G>A (p.Arg730Gln)

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: 45352210 (on Assembly GRCh38)
• Chr19: 45855468 (on Assembly GRCh37)

Preferred name:

NM_000400.4(ERCC2):c.2189G>A (p.Arg730Gln)

HGVS:

• NC_000019.10:g.45352210C>T
• NG_007067.2:g.23378G>A
• NM_000400.4:c.2189G>AMANE SELECT
• NP_000391.1:p.Arg730Gln
• LRG_461t1:c.2189G>A
• LRG_461:g.23378G>A
• NC_000019.9:g.45855468C>T
• NM_000400.3:c.2189G>A

This HGVS expression did not pass validation

Protein change:

R730Q

Links:

dbSNP: rs759412116

NCBI 1000 Genomes Browser:

rs759412116

Molecular consequence:

• NM_000400.4:c.2189G>A - missense variant - [Sequence Ontology: SO:0001583]