ClinVar

NM_000142.5(FGFR3):c.419A>T (p.Glu140Val)

Gene:

FGFR3:fibroblast growth factor receptor 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Preferred name:

NM_000142.5(FGFR3):c.419A>T (p.Glu140Val)

HGVS:

• NC_000004.12:g.1799786A>T
• NG_012632.1:g.11475A>T
• NM_000142.5:c.419A>TMANE SELECT
• NM_001163213.2:c.419A>T
• NM_001354809.2:c.419A>T
• NM_001354810.2:c.419A>T
• NM_022965.4:c.419A>T
• NP_000133.1:p.Glu140Val
• NP_000133.1:p.Glu140Val
• NP_001156685.1:p.Glu140Val
• NP_001156685.1:p.Glu140Val
• NP_001341738.1:p.Glu140Val
• NP_001341739.1:p.Glu140Val
• NP_075254.1:p.Glu140Val
• LRG_1021t1:c.419A>T
• LRG_1021t2:c.419A>T
• LRG_1021:g.11475A>T
• LRG_1021p1:p.Glu140Val
• LRG_1021p2:p.Glu140Val
• NC_000004.11:g.1801513A>T
• NM_000142.4:c.419A>T
• NM_001163213.1:c.419A>T
• NR_148971.2:n.694A>T

This HGVS expression did not pass validation

Protein change:

E140V

Molecular consequence:

• NM_000142.5:c.419A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001163213.2:c.419A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354809.2:c.419A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354810.2:c.419A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022965.4:c.419A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_148971.2:n.694A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]