ClinVar

NM_016729.3(FOLR1):c.373C>T (p.Arg125Cys)

Gene:

FOLR1:folate receptor alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.4

Genomic location:

• Chr11: 72195627 (on Assembly GRCh38)
• Chr11: 71906671 (on Assembly GRCh37)

Preferred name:

NM_016729.3(FOLR1):c.373C>T (p.Arg125Cys)

HGVS:

• NC_000011.10:g.72195627C>T
• NG_015863.1:g.11070C>T
• NM_000802.3:c.373C>T
• NM_016724.3:c.373C>T
• NM_016725.2:c.373C>T
• NM_016725.3:c.373C>T
• NM_016729.3:c.373C>TMANE SELECT
• NP_000793.1:p.Arg125Cys
• NP_057936.1:p.Arg125Cys
• NP_057937.1:p.Arg125Cys
• NP_057941.1:p.Arg125Cys
• NC_000011.9:g.71906671C>T

This HGVS expression did not pass validation

Protein change:

R125C

Links:

dbSNP: rs752503322

NCBI 1000 Genomes Browser:

rs752503322

Molecular consequence:

• NM_000802.3:c.373C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016724.3:c.373C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016725.3:c.373C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016729.3:c.373C>T - missense variant - [Sequence Ontology: SO:0001583]