ClinVar

NM_004628.5(XPC):c.2815C>A (p.Gln939Lys)

Genes:

TMEM43:transmembrane protein 43 [Gene - OMIM - HGNC]
XPC:XPC complex subunit, DNA damage recognition and repair factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.1

Genomic location:

• Chr3: 14145949 (on Assembly GRCh38)
• Chr3: 14187449 (on Assembly GRCh37)

Preferred name:

NM_004628.5(XPC):c.2815C>A (p.Gln939Lys)

HGVS:

• NC_000003.12:g.14145949G>T
• NG_011763.1:g.37724C>A
• NM_001354726.1:c.2236C>A
• NM_001354727.2:c.2809C>A
• NM_001354729.1:c.2797C>A
• NM_001354730.1:c.2569C>A
• NM_004628.4:c.2815C>A
• NM_004628.5:c.2815C>AMANE SELECT
• NP_001341655.1:p.Gln746Lys
• NP_001341656.1:p.Gln937Lys
• NP_001341658.1:p.Gln933Lys
• NP_001341659.1:p.Gln857Lys
• NP_004619.3:p.Gln939Lys
• NP_004619.3:p.Gln939Lys
• LRG_472t1:c.2815C>A
• LRG_472:g.37724C>A
• LRG_472p1:p.Gln939Lys
• NC_000003.11:g.14187449G>T
• NR_148950.2:n.2687C>A
• NR_148951.2:n.2563C>A
• Q01831:p.Gln939Lys

This HGVS expression did not pass validation

Protein change:

Q746K

Links:

PharmGKB: 655386612; PharmGKB: 655386612PA449014; PharmGKB Clinical Annotation: 655386612; UniProtKB: Q01831#VAR_005848; dbSNP: rs2228001

NCBI 1000 Genomes Browser:

rs2228001

Molecular consequence:

• NM_001354726.1:c.2236C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354727.2:c.2809C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354729.1:c.2797C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354730.1:c.2569C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004628.4:c.2815C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004628.5:c.2815C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_148950.2:n.2687C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148951.2:n.2563C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]