ClinVar

NM_004628.5(XPC):c.882T>C (p.Asp294=)

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: 14164831 (on Assembly GRCh38)
• Chr3: 14206331 (on Assembly GRCh37)

Preferred name:

NM_004628.5(XPC):c.882T>C (p.Asp294=)

HGVS:

• NC_000003.12:g.14164831A>G
• NG_011763.1:g.18842T>C
• NM_001354726.2:c.303T>C
• NM_001354727.2:c.882T>C
• NM_001354729.2:c.864T>C
• NM_001354730.2:c.882T>C
• NM_004628.5:c.882T>CMANE SELECT
• NP_001341655.1:p.Asp101=
• NP_001341656.1:p.Asp294=
• NP_001341658.1:p.Asp288=
• NP_001341659.1:p.Asp294=
• NP_004619.3:p.Asp294=
• NP_004619.3:p.Asp294=
• LRG_472t1:c.882T>C
• LRG_472:g.18842T>C
• LRG_472p1:p.Asp294=
• NC_000003.11:g.14206331A>G
• NM_004628.4:c.882T>C
• NR_027299.1:n.862T>C
• NR_148950.2:n.915T>C
• NR_148951.2:n.791T>C

This HGVS expression did not pass validation

Molecular consequence:

• NR_148950.2:n.915T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148951.2:n.791T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001354726.2:c.303T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354727.2:c.882T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354729.2:c.864T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354730.2:c.882T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004628.5:c.882T>C - synonymous variant - [Sequence Ontology: SO:0001819]