ClinVar

NM_004628.5(XPC):c.1791G>T (p.Arg597=)

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: 14158092 (on Assembly GRCh38)
• Chr3: 14199592 (on Assembly GRCh37)

Preferred name:

NM_004628.5(XPC):c.1791G>T (p.Arg597=)

HGVS:

• NC_000003.12:g.14158092C>A
• NG_011763.1:g.25581G>T
• NM_001354726.2:c.1212G>T
• NM_001354727.2:c.1791G>T
• NM_001354729.2:c.1773G>T
• NM_001354730.2:c.1626+165G>T
• NM_004628.5:c.1791G>TMANE SELECT
• NP_001341655.1:p.Arg404=
• NP_001341656.1:p.Arg597=
• NP_001341658.1:p.Arg591=
• NP_004619.3:p.Arg597=
• LRG_472:g.25581G>T
• NC_000003.11:g.14199592C>A
• NR_148950.2:n.1824G>T
• NR_148951.2:n.1700G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs760288886

NCBI 1000 Genomes Browser:

rs760288886

Molecular consequence:

• NM_001354730.2:c.1626+165G>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_148950.2:n.1824G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148951.2:n.1700G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001354726.2:c.1212G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354727.2:c.1791G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354729.2:c.1773G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004628.5:c.1791G>T - synonymous variant - [Sequence Ontology: SO:0001819]