ClinVar

NM_000400.4(ERCC2):c.1119-80C>T

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: 45361722 (on Assembly GRCh38)
• Chr19: 45864980 (on Assembly GRCh37)

Preferred name:

NM_000400.4(ERCC2):c.1119-80C>T

HGVS:

• NC_000019.10:g.45361722G>A
• NG_007067.2:g.13866C>T
• NM_000400.4:c.1119-80C>TMANE SELECT
• NM_001130867.2:c.1047-80C>T
• LRG_461:g.13866C>T
• NC_000019.9:g.45864980G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs3895625

NCBI 1000 Genomes Browser:

rs3895625

Molecular consequence:

• NM_000400.4:c.1119-80C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001130867.2:c.1047-80C>T - intron variant - [Sequence Ontology: SO:0001627]