ClinVar

NM_000123.4(ERCC5):c.6G>A (p.Gly2=)

Genes:

BIVM-ERCC5:BIVM-ERCC5 readthrough [Gene - HGNC]
ERCC5:ERCC excision repair 5, endonuclease [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q33.1

Genomic location:

• Chr13: 102846272 (on Assembly GRCh38)
• Chr13: 103498622 (on Assembly GRCh37)

Preferred name:

NM_000123.4(ERCC5):c.6G>A (p.Gly2=)

HGVS:

• NC_000013.11:g.102846272G>A
• NG_007146.1:g.5449G>A
• NG_128323.2:g.1411G>A
• NM_000123.4:c.6G>AMANE SELECT
• NM_001204425.2:c.1451-5846G>A
• NP_000114.2:p.Gly2=
• NP_000114.3:p.Gly2=
• LRG_464t1:c.6G>A
• LRG_464:g.5449G>A
• LRG_464p1:p.Gly2=
• NC_000013.10:g.103498622G>A
• NM_000123.3:c.6G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001204425.2:c.1451-5846G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000123.4:c.6G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1