ClinVar

NM_000122.2(ERCC3):c.2064+282A>G

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: 127260946 (on Assembly GRCh38)
• Chr2: 128018522 (on Assembly GRCh37)

Preferred name:

NM_000122.2(ERCC3):c.2064+282A>G

HGVS:

• NC_000002.12:g.127260946T>C
• NG_007454.1:g.38231A>G
• NM_000122.2:c.2064+282A>GMANE SELECT
• NM_001303416.2:c.1872+282A>G
• NM_001303418.2:c.1872+282A>G
• LRG_462:g.38231A>G
• NC_000002.11:g.128018522T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs4150515

NCBI 1000 Genomes Browser:

rs4150515

Molecular consequence:

• NM_000122.2:c.2064+282A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001303416.2:c.1872+282A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001303418.2:c.1872+282A>G - intron variant - [Sequence Ontology: SO:0001627]