ClinVar

NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

• Chr4: 1804365 (on Assembly GRCh38)
• Chr4: 1806092 (on Assembly GRCh37)

Preferred name:

NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys)

HGVS:

• NC_000004.12:g.1804365A>T
• NG_012632.1:g.16054A>T
• NM_000142.5:c.1111A>TMANE SELECT
• NM_001163213.2:c.1117A>T
• NM_001354809.2:c.1111A>T
• NM_001354810.2:c.1111A>T
• NM_022965.4:c.931-459A>T
• NP_000133.1:p.Ser371Cys
• NP_000133.1:p.Ser371Cys
• NP_001156685.1:p.Ser373Cys
• NP_001341738.1:p.Ser371Cys
• NP_001341739.1:p.Ser371Cys
• LRG_1021t1:c.1111A>T
• LRG_1021:g.16054A>T
• LRG_1021p1:p.Ser371Cys
• NC_000004.11:g.1806092A>T
• NM_000142.3:c.1111A>T
• NM_000142.4:c.1111A>T
• NR_148971.2:n.1537A>T
• P22607:p.Ser371Cys

This HGVS expression did not pass validation

Protein change:

S371C; SER371CYS

Links:

UniProtKB: P22607#VAR_004152; OMIM: 134934.0006; dbSNP: rs121913484

NCBI 1000 Genomes Browser:

rs121913484

Molecular consequence:

• NM_022965.4:c.931-459A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000142.5:c.1111A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001163213.2:c.1117A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354809.2:c.1111A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354810.2:c.1111A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_148971.2:n.1537A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]