ClinVar

NM_004628.5(XPC):c.2722C>T (p.Arg908Ter)

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: 14146042 (on Assembly GRCh38)
• Chr3: 14187542 (on Assembly GRCh37)

Preferred name:

NM_004628.5(XPC):c.2722C>T (p.Arg908Ter)

HGVS:

• NC_000003.12:g.14146042G>A
• NG_011763.1:g.37631C>T
• NM_001354726.2:c.2143C>T
• NM_001354727.2:c.2716C>T
• NM_001354729.2:c.2704C>T
• NM_001354730.2:c.2476C>T
• NM_004628.5:c.2722C>TMANE SELECT
• NP_001341655.1:p.Arg715Ter
• NP_001341656.1:p.Arg906Ter
• NP_001341658.1:p.Arg902Ter
• NP_001341659.1:p.Arg826Ter
• NP_004619.3:p.Arg908Ter
• NP_004619.3:p.Arg908Ter
• LRG_472t1:c.2722C>T
• LRG_472:g.37631C>T
• LRG_472p1:p.Arg908Ter
• NC_000003.11:g.14187542G>A
• NM_004628.4:c.2722C>T
• NR_148950.2:n.2594C>T
• NR_148951.2:n.2470C>T

This HGVS expression did not pass validation

Protein change:

R715*

Links:

dbSNP: rs199527751

NCBI 1000 Genomes Browser:

rs199527751

Molecular consequence:

• NR_148950.2:n.2594C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148951.2:n.2470C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001354726.2:c.2143C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354727.2:c.2716C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354729.2:c.2704C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354730.2:c.2476C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_004628.5:c.2722C>T - nonsense - [Sequence Ontology: SO:0001587]