ClinVar

NM_000380.4(XPA):c.674-79T>C

Gene:

XPA:XPA, DNA damage recognition and repair factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.33

Genomic location:

• Chr9: 97675666 (on Assembly GRCh38)
• Chr9: 100437948 (on Assembly GRCh37)

Preferred name:

NM_000380.4(XPA):c.674-79T>C

HGVS:

• NC_000009.12:g.97675666A>G
• NG_011642.1:g.26744T>C
• NM_000380.4:c.674-79T>CMANE SELECT
• NM_001354975.2:c.548-79T>C
• LRG_471:g.26744T>C
• NC_000009.11:g.100437948A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs149921914

NCBI 1000 Genomes Browser:

rs149921914

Molecular consequence:

• NM_000380.4:c.674-79T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354975.2:c.548-79T>C - intron variant - [Sequence Ontology: SO:0001627]