ClinVar

NM_005236.3(ERCC4):c.1788G>T (p.Ala596=)

Gene:

ERCC4:ERCC excision repair 4, endonuclease catalytic subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.12

Genomic location:

• Chr16: 13935720 (on Assembly GRCh38)
• Chr16: 14029577 (on Assembly GRCh37)

Preferred name:

NM_005236.3(ERCC4):c.1788G>T (p.Ala596=)

HGVS:

• NC_000016.10:g.13935720G>T
• NG_011442.1:g.20564G>T
• NM_005236.3:c.1788G>TMANE SELECT
• NP_005227.1:p.Ala596=
• NP_005227.1:p.Ala596=
• LRG_463t1:c.1788G>T
• LRG_463:g.20564G>T
• LRG_463p1:p.Ala596=
• NC_000016.9:g.14029577G>T
• NM_005236.2:c.1788G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs374303503

NCBI 1000 Genomes Browser:

rs374303503

Molecular consequence:

• NM_005236.3:c.1788G>T - synonymous variant - [Sequence Ontology: SO:0001819]