ClinVar

NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp)

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: 49524234 (on Assembly GRCh38)
• Chr10: 50732280 (on Assembly GRCh37)

Preferred name:

NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp)

HGVS:

• NC_000010.11:g.49524234C>T
• NG_009442.1:g.19868G>A
• NG_033155.1:g.5048G>A
• NM_000124.4:c.1196G>AMANE SELECT
• NM_001277058.2:c.1196G>A
• NM_001277059.2:c.1196G>A
• NM_001346440.2:c.1196G>A
• NM_170753.3:c.-209G>A
• NP_000115.1:p.Gly399Asp
• NP_000115.1:p.Gly399Asp
• NP_001263987.1:p.Gly399Asp
• NP_001263988.1:p.Gly399Asp
• NP_001333369.1:p.Gly399Asp
• LRG_465t1:c.1196G>A
• LRG_465:g.19868G>A
• LRG_465p1:p.Gly399Asp
• NC_000010.10:g.50732280C>T
• NM_000124.2:c.1196G>A
• NM_000124.3:c.1196G>A
• Q03468:p.Gly399Asp

This HGVS expression did not pass validation

Protein change:

G399D

Links:

UniProtKB: Q03468#VAR_001217; dbSNP: rs2228528

NCBI 1000 Genomes Browser:

rs2228528

Molecular consequence:

• NM_170753.3:c.-209G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000124.4:c.1196G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001277058.2:c.1196G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001277059.2:c.1196G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346440.2:c.1196G>A - missense variant - [Sequence Ontology: SO:0001583]