ClinVar

NM_016729.3(FOLR1):c.321C>T (p.Tyr107=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.4

Genomic location:

• Chr11: 72195423 (on Assembly GRCh38)
• Chr11: 71906467 (on Assembly GRCh37)

Preferred name:

NM_016729.3(FOLR1):c.321C>T (p.Tyr107=)

Other names:

p.Y107Y:TAC>TAT

HGVS:

• NC_000011.10:g.72195423C>T
• NG_015863.1:g.10866C>T
• NM_000802.3:c.321C>T
• NM_016724.3:c.321C>T
• NM_016725.3:c.321C>T
• NM_016729.3:c.321C>TMANE SELECT
• NP_000793.1:p.Tyr107=
• NP_057936.1:p.Tyr107=
• NP_057937.1:p.Tyr107=
• NP_057941.1:p.Tyr107=
• NC_000011.9:g.71906467C>T
• NM_016724.2:c.321C>T
• NM_016725.2:c.321C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs145674759

NCBI 1000 Genomes Browser:

rs145674759

Molecular consequence:

• NM_000802.3:c.321C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_016724.3:c.321C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_016725.3:c.321C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_016729.3:c.321C>T - synonymous variant - [Sequence Ontology: SO:0001819]