ClinVar

NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q22

Genomic location:

• Chr17: 58703201 (on Assembly GRCh38)
• Chr17: 56780562 (on Assembly GRCh37)

Preferred name:

NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)

Other names:

p.R193*:CGA>TGA

HGVS:

• NC_000017.11:g.58703201C>T
• NG_023199.1:g.15600C>T
• NM_058216.3:c.577C>TMANE SELECT
• NP_478123.1:p.Arg193Ter
• LRG_314t1:c.577C>T
• LRG_314:g.15600C>T
• NC_000017.10:g.56780562C>T
• NM_058216.1:c.577C>T
• NM_058216.2:c.577C>T
• NR_103872.2:n.452C>T
• p.R193*

This HGVS expression did not pass validation

Protein change:

R193*

Links:

dbSNP: rs200293302

NCBI 1000 Genomes Browser:

rs200293302

Molecular consequence:

• NR_103872.2:n.452C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_058216.3:c.577C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1