ClinVar

NM_058216.3(RAD51C):c.141C>T (p.Ser47=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q22

Genomic location:

• Chr17: 58692784 (on Assembly GRCh38)
• Chr17: 56770145 (on Assembly GRCh37)

Preferred name:

NM_058216.3(RAD51C):c.141C>T (p.Ser47=)

HGVS:

• NC_000017.11:g.58692784C>T
• NG_023199.1:g.5183C>T
• NG_047169.1:g.4296G>A
• NM_002876.4:c.141C>T
• NM_058216.3:c.141C>TMANE SELECT
• NP_002867.1:p.Ser47=
• NP_478123.1:p.Ser47=
• LRG_314t1:c.141C>T
• LRG_314:g.5183C>T
• NC_000017.10:g.56770145C>T
• NM_058216.1:c.141C>T
• NM_058216.2:c.141C>T
• NR_103872.2:n.183C>T
• p.S47S
• p.Ser47Ser

This HGVS expression did not pass validation

Links:

dbSNP: rs568912602

NCBI 1000 Genomes Browser:

rs568912602

Molecular consequence:

• NR_103872.2:n.183C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_002876.4:c.141C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_058216.3:c.141C>T - synonymous variant - [Sequence Ontology: SO:0001819]