ClinVar

NM_004628.5(XPC):c.2697A>C (p.Ile899=)

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: 14146067 (on Assembly GRCh38)
• Chr3: 14187567 (on Assembly GRCh37)

Preferred name:

NM_004628.5(XPC):c.2697A>C (p.Ile899=)

HGVS:

• NC_000003.12:g.14146067T>G
• NG_011763.1:g.37606A>C
• NM_001354726.2:c.2118A>C
• NM_001354727.2:c.2691A>C
• NM_001354729.2:c.2679A>C
• NM_001354730.2:c.2451A>C
• NM_004628.4:c.2697A>C
• NM_004628.5:c.2697A>CMANE SELECT
• NP_001341655.1:p.Ile706=
• NP_001341656.1:p.Ile897=
• NP_001341658.1:p.Ile893=
• NP_001341659.1:p.Ile817=
• NP_004619.3:p.Ile899=
• LRG_472t1:c.2697A>C
• LRG_472:g.37606A>C
• NC_000003.11:g.14187567T>G
• NR_148950.2:n.2569A>C
• NR_148951.2:n.2445A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs773031424

NCBI 1000 Genomes Browser:

rs773031424

Molecular consequence:

• NR_148950.2:n.2569A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148951.2:n.2445A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001354726.2:c.2118A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354727.2:c.2691A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354729.2:c.2679A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354730.2:c.2451A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004628.5:c.2697A>C - synonymous variant - [Sequence Ontology: SO:0001819]