ClinVar

NM_004628.5(XPC):c.142C>T (p.Leu48Phe)

Gene:

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: 14173024 (on Assembly GRCh38)
• Chr3: 14214524 (on Assembly GRCh37)

Preferred name:

NM_004628.5(XPC):c.142C>T (p.Leu48Phe)

HGVS:

• NC_000003.12:g.14173024G>A
• NG_011763.1:g.10649C>T
• NM_001354726.2:c.-314C>T
• NM_001354727.2:c.142C>T
• NM_001354729.2:c.124C>T
• NM_001354730.2:c.142C>T
• NM_004628.5:c.142C>TMANE SELECT
• NP_001341656.1:p.Leu48Phe
• NP_001341658.1:p.Leu42Phe
• NP_001341659.1:p.Leu48Phe
• NP_004619.3:p.Leu48Phe
• NP_004619.3:p.Leu48Phe
• LRG_472t1:c.142C>T
• LRG_472:g.10649C>T
• LRG_472p1:p.Leu48Phe
• NC_000003.11:g.14214524G>A
• NM_004628.4:c.142C>T
• NR_148950.2:n.175C>T
• NR_148951.2:n.175C>T
• Q01831:p.Leu48Phe

This HGVS expression did not pass validation

Protein change:

L42F

Links:

UniProtKB: Q01831#VAR_018895; dbSNP: rs2229089

NCBI 1000 Genomes Browser:

rs2229089

Molecular consequence:

• NM_001354726.2:c.-314C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001354727.2:c.142C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354729.2:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354730.2:c.142C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004628.5:c.142C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_148950.2:n.175C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148951.2:n.175C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]