ClinVar

NM_058216.3(RAD51C):c.680C>T (p.Pro227Leu)

Genes:

LOC129390903:MPRA-validated peak2919 silencer [Gene]
RAD51C:RAD51 paralog C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q22

Genomic location:

• Chr17: 58703304 (on Assembly GRCh38)
• Chr17: 56780665 (on Assembly GRCh37)

Preferred name:

NM_058216.3(RAD51C):c.680C>T (p.Pro227Leu)

HGVS:

• NC_000017.11:g.58703304C>T
• NG_023199.1:g.15703C>T
• NM_058216.3:c.680C>TMANE SELECT
• NP_478123.1:p.Pro227Leu
• LRG_314t1:c.680C>T
• LRG_314:g.15703C>T
• NC_000017.10:g.56780665C>T
• NM_058216.1:c.680C>T
• NM_058216.2:c.680C>T
• NR_103872.2:n.555C>T

This HGVS expression did not pass validation

Protein change:

P227L

Links:

dbSNP: rs1374461662

NCBI 1000 Genomes Browser:

rs1374461662

Molecular consequence:

• NM_058216.3:c.680C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_103872.2:n.555C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]