ClinVar

NM_000142.5(FGFR3):c.1476C>T (p.Ile492=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

• Chr4: 1805418 (on Assembly GRCh38)
• Chr4: 1807145 (on Assembly GRCh37)

Preferred name:

NM_000142.5(FGFR3):c.1476C>T (p.Ile492=)

HGVS:

• NC_000004.12:g.1805418C>T
• NG_012632.1:g.17107C>T
• NM_000142.5:c.1476C>TMANE SELECT
• NM_001163213.2:c.1482C>T
• NM_001354809.2:c.1479C>T
• NM_001354810.2:c.1479C>T
• NM_022965.4:c.1140C>T
• NP_000133.1:p.Ile492=
• NP_000133.1:p.Ile492=
• NP_001156685.1:p.Ile494=
• NP_001341738.1:p.Ile493=
• NP_001341739.1:p.Ile493=
• NP_075254.1:p.Ile380=
• LRG_1021t1:c.1476C>T
• LRG_1021:g.17107C>T
• LRG_1021p1:p.Ile492=
• NC_000004.11:g.1807145C>T
• NC_000004.11:g.1807145C>T
• NM_000142.4:c.1476C>T
• NR_148971.2:n.1902C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs373254179

NCBI 1000 Genomes Browser:

rs373254179

Molecular consequence:

• NR_148971.2:n.1902C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000142.5:c.1476C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001163213.2:c.1482C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354809.2:c.1479C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354810.2:c.1479C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022965.4:c.1140C>T - synonymous variant - [Sequence Ontology: SO:0001819]