ClinVar

NM_000380.4(XPA):c.482C>T (p.Pro161Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.33

Genomic location:

• Chr9: 97687169 (on Assembly GRCh38)
• Chr9: 100449451 (on Assembly GRCh37)

Preferred name:

NM_000380.4(XPA):c.482C>T (p.Pro161Leu)

HGVS:

• NC_000009.12:g.97687169G>A
• NG_011642.1:g.15241C>T
• NM_000380.4:c.482C>TMANE SELECT
• NM_001354975.2:c.356C>T
• NP_000371.1:p.Pro161Leu
• NP_001341904.1:p.Pro119Leu
• LRG_471t1:c.482C>T
• LRG_471:g.15241C>T
• NC_000009.11:g.100449451G>A
• NM_000380.3:c.482C>T
• NR_027302.2:n.530C>T
• NR_149092.2:n.424C>T
• NR_149093.2:n.530C>T
• NR_149094.2:n.424C>T

This HGVS expression did not pass validation

Protein change:

P119L

Links:

dbSNP: rs1828744402

NCBI 1000 Genomes Browser:

rs1828744402

Molecular consequence:

• NM_000380.4:c.482C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354975.2:c.356C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_027302.2:n.530C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_149092.2:n.424C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_149093.2:n.530C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_149094.2:n.424C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]