ClinVar

NM_004628.5(XPC):c.2250+18A>T

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: 14148796 (on Assembly GRCh38)
• Chr3: 14190296 (on Assembly GRCh37)

Preferred name:

NM_004628.5(XPC):c.2250+18A>T

HGVS:

• NC_000003.12:g.14148796T>A
• NG_011763.1:g.34877A>T
• NG_098743.1:g.344T>A
• NM_001354726.2:c.1671+18A>T
• NM_001354727.2:c.2244+18A>T
• NM_001354729.2:c.2232+18A>T
• NM_001354730.2:c.2004+18A>T
• NM_004628.5:c.2250+18A>TMANE SELECT
• LRG_472:g.34877A>T
• NC_000003.11:g.14190296T>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001354726.2:c.1671+18A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354727.2:c.2244+18A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354729.2:c.2232+18A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354730.2:c.2004+18A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_004628.5:c.2250+18A>T - intron variant - [Sequence Ontology: SO:0001627]