ClinVar

NM_000142.5(FGFR3):c.1162C>T (p.Leu388=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

• Chr4: 1804416 (on Assembly GRCh38)
• Chr4: 1806143 (on Assembly GRCh37)

Preferred name:

NM_000142.5(FGFR3):c.1162C>T (p.Leu388=)

HGVS:

• NC_000004.12:g.1804416C>T
• NG_012632.1:g.16105C>T
• NM_000142.5:c.1162C>TMANE SELECT
• NM_001163213.2:c.1168C>T
• NM_001354809.2:c.1162C>T
• NM_001354810.2:c.1162C>T
• NM_022965.4:c.931-408C>T
• NP_000133.1:p.Leu388=
• NP_000133.1:p.Leu388=
• NP_001156685.1:p.Leu390=
• NP_001156685.1:p.Leu390=
• NP_001341738.1:p.Leu388=
• NP_001341739.1:p.Leu388=
• LRG_1021t1:c.1162C>T
• LRG_1021t2:c.1168C>T
• LRG_1021:g.16105C>T
• LRG_1021p1:p.Leu388=
• LRG_1021p2:p.Leu390=
• NC_000004.11:g.1806143C>T
• NM_000142.4:c.1162C>T
• NM_001163213.1:c.1168C>T
• NR_148971.2:n.1588C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_022965.4:c.931-408C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_148971.2:n.1588C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000142.5:c.1162C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001163213.2:c.1168C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354809.2:c.1162C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354810.2:c.1162C>T - synonymous variant - [Sequence Ontology: SO:0001819]