ClinVar

NM_000124.4(ERCC6):c.1178C>T (p.Ala393Val)

Genes:

ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
PGBD3:piggyBac transposable element derived 3 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q11.23

Genomic location:

• Chr10: 49524252 (on Assembly GRCh38)
• Chr10: 50732298 (on Assembly GRCh37)

Preferred name:

NM_000124.4(ERCC6):c.1178C>T (p.Ala393Val)

HGVS:

• NC_000010.11:g.49524252G>A
• NG_009442.1:g.19850C>T
• NG_033155.1:g.5030C>T
• NM_000124.4:c.1178C>TMANE SELECT
• NM_001277058.2:c.1178C>T
• NM_001277059.2:c.1178C>T
• NM_001346440.2:c.1178C>T
• NM_170753.3:c.-227C>T
• NP_000115.1:p.Ala393Val
• NP_000115.1:p.Ala393Val
• NP_001263987.1:p.Ala393Val
• NP_001263988.1:p.Ala393Val
• NP_001333369.1:p.Ala393Val
• LRG_465t1:c.1178C>T
• LRG_465:g.19850C>T
• LRG_465p1:p.Ala393Val
• NC_000010.10:g.50732298G>A
• NM_000124.2:c.1178C>T

This HGVS expression did not pass validation

Protein change:

A393V

Molecular consequence:

• NM_170753.3:c.-227C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000124.4:c.1178C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001277058.2:c.1178C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001277059.2:c.1178C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346440.2:c.1178C>T - missense variant - [Sequence Ontology: SO:0001583]