ClinVar

NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)

Gene:

ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q11.23

Genomic location:

• Chr10: 49470838 (on Assembly GRCh38)
• Chr10: 50678884 (on Assembly GRCh37)

Preferred name:

NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)

HGVS:

• NC_000010.11:g.49470838T>G
• NG_009442.1:g.73264A>C
• NM_000124.4:c.3122A>CMANE SELECT
• NM_001346440.2:c.3122A>C
• NP_000115.1:p.Gln1041Pro
• NP_001333369.1:p.Gln1041Pro
• LRG_465t1:c.3122A>C
• LRG_465:g.73264A>C
• NC_000010.10:g.50678884T>G
• NM_000124.2:c.3122A>C
• NM_000124.3:c.3122A>C

This HGVS expression did not pass validation

Protein change:

Q1041P

Links:

dbSNP: rs139007661

NCBI 1000 Genomes Browser:

rs139007661

Molecular consequence:

• NM_000124.4:c.3122A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346440.2:c.3122A>C - missense variant - [Sequence Ontology: SO:0001583]