ClinVar

NM_000400.4(ERCC2):c.1894A>C (p.Ile632Leu)

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: 45352754 (on Assembly GRCh38)
• Chr19: 45856012 (on Assembly GRCh37)

Preferred name:

NM_000400.4(ERCC2):c.1894A>C (p.Ile632Leu)

HGVS:

• NC_000019.10:g.45352754T>G
• NG_007067.2:g.22834A>C
• NM_000400.4:c.1894A>CMANE SELECT
• NP_000391.1:p.Ile632Leu
• LRG_461t1:c.1894A>C
• LRG_461:g.22834A>C
• NC_000019.9:g.45856012T>G
• NM_000400.3:c.1894A>C

This HGVS expression did not pass validation

Protein change:

I632L

Links:

dbSNP: rs1027684347

NCBI 1000 Genomes Browser:

rs1027684347

Molecular consequence:

• NM_000400.4:c.1894A>C - missense variant - [Sequence Ontology: SO:0001583]