ClinVar

NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

• Chr4: 1806163 (on Assembly GRCh38)
• Chr4: 1807890 (on Assembly GRCh37)

Preferred name:

NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met)

HGVS:

• NC_000004.12:g.1806163A>T
• NG_012632.1:g.17852A>T
• NM_000142.5:c.1949A>TMANE SELECT
• NM_001163213.2:c.1955A>T
• NM_001354809.2:c.1952A>T
• NM_001354810.2:c.1952A>T
• NM_022965.4:c.1613A>T
• NP_000133.1:p.Lys650Met
• NP_001156685.1:p.Lys652Met
• NP_001341738.1:p.Lys651Met
• NP_001341739.1:p.Lys651Met
• NP_075254.1:p.Lys538Met
• LRG_1021t1:c.1949A>T
• LRG_1021:g.17852A>T
• NC_000004.11:g.1807890A>T
• NM_000142.3:c.1949A>T
• NM_000142.4:c.1949A>T
• NR_148971.2:n.2375A>T
• P22607:p.Lys650Met

This HGVS expression did not pass validation

Protein change:

K538M; LYS650MET

Links:

UniProtKB: P22607#VAR_004161; OMIM: 134934.0015; dbSNP: rs121913105

NCBI 1000 Genomes Browser:

rs121913105

Molecular consequence:

• NM_000142.5:c.1949A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001163213.2:c.1955A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354809.2:c.1952A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354810.2:c.1952A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022965.4:c.1613A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_148971.2:n.2375A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

Unknown function

Observations:

1