ClinVar

NM_004628.5(XPC):c.2235G>A (p.Val745=)

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: 14148829 (on Assembly GRCh38)
• Chr3: 14190329 (on Assembly GRCh37)

Preferred name:

NM_004628.5(XPC):c.2235G>A (p.Val745=)

HGVS:

• NC_000003.12:g.14148829C>T
• NG_011763.1:g.34844G>A
• NM_001354726.2:c.1656G>A
• NM_001354727.2:c.2229G>A
• NM_001354729.2:c.2217G>A
• NM_001354730.2:c.1989G>A
• NM_004628.5:c.2235G>AMANE SELECT
• NP_001341655.1:p.Val552=
• NP_001341656.1:p.Val743=
• NP_001341658.1:p.Val739=
• NP_001341659.1:p.Val663=
• NP_004619.3:p.Val745=
• LRG_472t1:c.2235G>A
• LRG_472:g.34844G>A
• NC_000003.11:g.14190329C>T
• NM_004628.4:c.2235G>A
• NR_148950.2:n.2107G>A
• NR_148951.2:n.1983G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1574950321

NCBI 1000 Genomes Browser:

rs1574950321

Molecular consequence:

• NR_148950.2:n.2107G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148951.2:n.1983G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001354726.2:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354727.2:c.2229G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354729.2:c.2217G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354730.2:c.1989G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004628.5:c.2235G>A - synonymous variant - [Sequence Ontology: SO:0001819]