ClinVar

NM_000400.4(ERCC2):c.2064C>G (p.Asp688Glu)

Gene:

ERCC2:ERCC excision repair 2, TFIIH core complex helicase subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

• Chr19: 45352335 (on Assembly GRCh38)
• Chr19: 45855593 (on Assembly GRCh37)

Preferred name:

NM_000400.4(ERCC2):c.2064C>G (p.Asp688Glu)

HGVS:

• NC_000019.10:g.45352335G>C
• NG_007067.2:g.23253C>G
• NM_000400.4:c.2064C>GMANE SELECT
• NP_000391.1:p.Asp688Glu
• LRG_461t1:c.2064C>G
• LRG_461:g.23253C>G
• NC_000019.9:g.45855593G>C
• NM_000400.3:c.2064C>G

This HGVS expression did not pass validation

Protein change:

D688E

Links:

dbSNP: rs1260724831

NCBI 1000 Genomes Browser:

rs1260724831

Molecular consequence:

• NM_000400.4:c.2064C>G - missense variant - [Sequence Ontology: SO:0001583]