ClinVar

NM_000380.4(XPA):c.683G>A (p.Arg228Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.33

Genomic location:

• Chr9: 97675578 (on Assembly GRCh38)
• Chr9: 100437860 (on Assembly GRCh37)

Preferred name:

NM_000380.4(XPA):c.683G>A (p.Arg228Gln)

HGVS:

• NC_000009.12:g.97675578C>T
• NG_011642.1:g.26832G>A
• NM_000380.4:c.683G>AMANE SELECT
• NM_001354975.2:c.557G>A
• NP_000371.1:p.Arg228Gln
• NP_000371.1:p.Arg228Gln
• NP_001341904.1:p.Arg186Gln
• LRG_471t1:c.683G>A
• LRG_471:g.26832G>A
• LRG_471p1:p.Arg228Gln
• NC_000009.11:g.100437860C>T
• NM_000380.3:c.683G>A
• NR_027302.2:n.962G>A
• NR_149091.2:n.459G>A
• NR_149092.2:n.625G>A
• NR_149093.2:n.1151G>A
• NR_149094.2:n.1045G>A
• P23025:p.Arg228Gln

This HGVS expression did not pass validation

Protein change:

R186Q

Links:

UniProtKB: P23025#VAR_014799; dbSNP: rs1805160

NCBI 1000 Genomes Browser:

rs1805160

Molecular consequence:

• NM_000380.4:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354975.2:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_027302.2:n.962G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_149091.2:n.459G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_149092.2:n.625G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_149093.2:n.1151G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_149094.2:n.1045G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]