ClinVar

NM_004628.5(XPC):c.1780C>T (p.Arg594Cys)

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: 14158103 (on Assembly GRCh38)
• Chr3: 14199603 (on Assembly GRCh37)

Preferred name:

NM_004628.5(XPC):c.1780C>T (p.Arg594Cys)

HGVS:

• NC_000003.12:g.14158103G>A
• NG_011763.1:g.25570C>T
• NM_001354726.2:c.1201C>T
• NM_001354727.2:c.1780C>T
• NM_001354729.2:c.1762C>T
• NM_001354730.2:c.1626+154C>T
• NM_004628.5:c.1780C>TMANE SELECT
• NP_001341655.1:p.Arg401Cys
• NP_001341656.1:p.Arg594Cys
• NP_001341658.1:p.Arg588Cys
• NP_004619.3:p.Arg594Cys
• NP_004619.3:p.Arg594Cys
• LRG_472t1:c.1780C>T
• LRG_472:g.25570C>T
• LRG_472p1:p.Arg594Cys
• NC_000003.11:g.14199603G>A
• NM_004628.4:c.1780C>T
• NR_148950.2:n.1813C>T
• NR_148951.2:n.1689C>T

This HGVS expression did not pass validation

Protein change:

R401C

Links:

dbSNP: rs183238369

NCBI 1000 Genomes Browser:

rs183238369

Molecular consequence:

• NM_001354730.2:c.1626+154C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354726.2:c.1201C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354727.2:c.1780C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354729.2:c.1762C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004628.5:c.1780C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_148950.2:n.1813C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148951.2:n.1689C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]