ClinVar

NM_058216.3(RAD51C):c.34C>T (p.Arg12Trp)

Gene:

RAD51C:RAD51 paralog C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q22

Genomic location:

• Chr17: 58692677 (on Assembly GRCh38)
• Chr17: 56770038 (on Assembly GRCh37)

Preferred name:

NM_058216.3(RAD51C):c.34C>T (p.Arg12Trp)

HGVS:

• NC_000017.11:g.58692677C>T
• NG_023199.1:g.5076C>T
• NG_047169.1:g.4403G>A
• NM_002876.4:c.34C>T
• NM_058216.3:c.34C>TMANE SELECT
• NP_002867.1:p.Arg12Trp
• NP_478123.1:p.Arg12Trp
• LRG_314t1:c.34C>T
• LRG_314:g.5076C>T
• NC_000017.10:g.56770038C>T
• NM_058216.1:c.34C>T
• NM_058216.2:c.34C>T
• NR_103872.2:n.76C>T
• NR_103873.1:n.105C>T

This HGVS expression did not pass validation

Protein change:

R12W

Links:

dbSNP: rs28910276

NCBI 1000 Genomes Browser:

rs28910276

Molecular consequence:

• NM_002876.4:c.34C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_058216.3:c.34C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_103872.2:n.76C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_103873.1:n.105C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]