ClinVar

NM_004628.5(XPC):c.2355G>A (p.Lys785=)

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: 14148627 (on Assembly GRCh38)
• Chr3: 14190127 (on Assembly GRCh37)

Preferred name:

NM_004628.5(XPC):c.2355G>A (p.Lys785=)

HGVS:

• NC_000003.12:g.14148627C>T
• NG_011763.1:g.35046G>A
• NM_001354726.2:c.1776G>A
• NM_001354727.2:c.2349G>A
• NM_001354729.2:c.2337G>A
• NM_001354730.2:c.2109G>A
• NM_004628.5:c.2355G>AMANE SELECT
• NP_001341655.1:p.Lys592=
• NP_001341656.1:p.Lys783=
• NP_001341658.1:p.Lys779=
• NP_001341659.1:p.Lys703=
• NP_004619.3:p.Lys785=
• LRG_472:g.35046G>A
• NC_000003.11:g.14190127C>T
• NR_148950.2:n.2227G>A
• NR_148951.2:n.2103G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1045962488

NCBI 1000 Genomes Browser:

rs1045962488

Molecular consequence:

• NR_148950.2:n.2227G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148951.2:n.2103G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001354726.2:c.1776G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354727.2:c.2349G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354729.2:c.2337G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354730.2:c.2109G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004628.5:c.2355G>A - synonymous variant - [Sequence Ontology: SO:0001819]