ClinVar

NM_004628.5(XPC):c.1701C>T (p.Thr567=)

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: 14158182 (on Assembly GRCh38)
• Chr3: 14199682 (on Assembly GRCh37)

Preferred name:

NM_004628.5(XPC):c.1701C>T (p.Thr567=)

HGVS:

• NC_000003.12:g.14158182G>A
• NG_011763.1:g.25491C>T
• NM_001354726.2:c.1122C>T
• NM_001354727.2:c.1701C>T
• NM_001354729.2:c.1683C>T
• NM_001354730.2:c.1626+75C>T
• NM_004628.5:c.1701C>TMANE SELECT
• NP_001341655.1:p.Thr374=
• NP_001341656.1:p.Thr567=
• NP_001341658.1:p.Thr561=
• NP_004619.3:p.Thr567=
• NP_004619.3:p.Thr567=
• LRG_472t1:c.1701C>T
• LRG_472:g.25491C>T
• LRG_472p1:p.Thr567=
• NC_000003.11:g.14199682G>A
• NM_004628.4:c.1701C>T
• NR_027299.1:n.1681C>T
• NR_148950.2:n.1734C>T
• NR_148951.2:n.1610C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001354730.2:c.1626+75C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_148950.2:n.1734C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148951.2:n.1610C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001354726.2:c.1122C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354727.2:c.1701C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354729.2:c.1683C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004628.5:c.1701C>T - synonymous variant - [Sequence Ontology: SO:0001819]