ClinVar

NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

• Chr4: 1804392 (on Assembly GRCh38)
• Chr4: 1806119 (on Assembly GRCh37)

Preferred name:

NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg)

Other names:

FGFR3, GLY380ARG, 1138G-C

HGVS:

• NC_000004.12:g.1804392G>C
• NG_012632.1:g.16081G>C
• NM_000142.5:c.1138G>CMANE SELECT
• NM_001163213.2:c.1144G>C
• NM_001354809.2:c.1138G>C
• NM_001354810.2:c.1138G>C
• NM_022965.4:c.931-432G>C
• NP_000133.1:p.Gly380Arg
• NP_000133.1:p.Gly380Arg
• NP_001156685.1:p.Gly382Arg
• NP_001341738.1:p.Gly380Arg
• NP_001341739.1:p.Gly380Arg
• LRG_1021t1:c.1138G>C
• LRG_1021:g.16081G>C
• LRG_1021p1:p.Gly380Arg
• NC_000004.11:g.1806119G>C
• NM_000142.4:c.1138G>C
• NR_148971.2:n.1564G>C
• P22607:p.Gly380Arg
• c.1138G>C (p.G380R)
• c.1138G>C(p.G380R)

This HGVS expression did not pass validation

Protein change:

G380R; GLY380ARG

Links:

Genetic Testing Registry (GTR): GTR000500504; UniProtKB: P22607#VAR_004155; OMIM: 134934.0002; dbSNP: rs28931614

NCBI 1000 Genomes Browser:

rs28931614

Molecular consequence:

• NM_022965.4:c.931-432G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000142.5:c.1138G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001163213.2:c.1144G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354809.2:c.1138G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354810.2:c.1138G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_148971.2:n.1564G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]