ClinVar

NM_004628.5(XPC):c.300G>A (p.Arg100=)

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: 14170550 (on Assembly GRCh38)
• Chr3: 14212050 (on Assembly GRCh37)

Preferred name:

NM_004628.5(XPC):c.300G>A (p.Arg100=)

HGVS:

• NC_000003.12:g.14170550C>T
• NG_011763.1:g.13123G>A
• NM_001354726.2:c.-156G>A
• NM_001354727.2:c.300G>A
• NM_001354729.2:c.282G>A
• NM_001354730.2:c.300G>A
• NM_004628.5:c.300G>AMANE SELECT
• NP_001341656.1:p.Arg100=
• NP_001341658.1:p.Arg94=
• NP_001341659.1:p.Arg100=
• NP_004619.3:p.Arg100=
• NP_004619.3:p.Arg100=
• LRG_472t1:c.300G>A
• LRG_472:g.13123G>A
• LRG_472p1:p.Arg100=
• NC_000003.11:g.14212050C>T
• NM_004628.4:c.300G>A
• NR_148950.2:n.333G>A
• NR_148951.2:n.333G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2228002

NCBI 1000 Genomes Browser:

rs2228002

Molecular consequence:

• NM_001354726.2:c.-156G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_148950.2:n.333G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148951.2:n.333G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001354727.2:c.300G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354729.2:c.282G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354730.2:c.300G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004628.5:c.300G>A - synonymous variant - [Sequence Ontology: SO:0001819]