ClinVar

NM_004628.5(XPC):c.2715T>C (p.Pro905=)

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: 14146049 (on Assembly GRCh38)
• Chr3: 14187549 (on Assembly GRCh37)

Preferred name:

NM_004628.5(XPC):c.2715T>C (p.Pro905=)

HGVS:

• NC_000003.12:g.14146049A>G
• NG_011763.1:g.37624T>C
• NM_001354726.2:c.2136T>C
• NM_001354727.2:c.2709T>C
• NM_001354729.2:c.2697T>C
• NM_001354730.2:c.2469T>C
• NM_004628.5:c.2715T>CMANE SELECT
• NP_001341655.1:p.Pro712=
• NP_001341656.1:p.Pro903=
• NP_001341658.1:p.Pro899=
• NP_001341659.1:p.Pro823=
• NP_004619.3:p.Pro905=
• LRG_472:g.37624T>C
• NC_000003.11:g.14187549A>G
• NR_148950.2:n.2587T>C
• NR_148951.2:n.2463T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs2125004972

NCBI 1000 Genomes Browser:

rs2125004972

Molecular consequence:

• NR_148950.2:n.2587T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148951.2:n.2463T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001354726.2:c.2136T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354727.2:c.2709T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354729.2:c.2697T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354730.2:c.2469T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004628.5:c.2715T>C - synonymous variant - [Sequence Ontology: SO:0001819]