ClinVar

NM_000123.4(ERCC5):c.1572G>A (p.Pro524=)

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: 102862721 (on Assembly GRCh38)
• Chr13: 103515071 (on Assembly GRCh37)

Preferred name:

NM_000123.4(ERCC5):c.1572G>A (p.Pro524=)

HGVS:

• NC_000013.11:g.102862721G>A
• NG_007146.1:g.21898G>A
• NM_000123.4:c.1572G>AMANE SELECT
• NM_001204425.2:c.2934G>A
• NP_000114.2:p.Pro524=
• NP_000114.3:p.Pro524=
• NP_001191354.2:p.Pro978=
• LRG_464t1:c.1572G>A
• LRG_464:g.21898G>A
• LRG_464p1:p.Pro524=
• NC_000013.10:g.103515071G>A
• NM_000123.3:c.1572G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs776326992

NCBI 1000 Genomes Browser:

rs776326992

Molecular consequence:

• NM_000123.4:c.1572G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001204425.2:c.2934G>A - synonymous variant - [Sequence Ontology: SO:0001819]