ClinVar

NM_000142.5(FGFR3):c.504C>T (p.Ala168=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

• Chr4: 1801425 (on Assembly GRCh38)
• Chr4: 1803152 (on Assembly GRCh37)

Preferred name:

NM_000142.5(FGFR3):c.504C>T (p.Ala168=)

HGVS:

• NC_000004.12:g.1801425C>T
• NG_012632.1:g.13114C>T
• NM_000142.4:c.504C>T
• NM_000142.5:c.504C>TMANE SELECT
• NM_001163213.2:c.504C>T
• NM_001354809.2:c.504C>T
• NM_001354810.2:c.504C>T
• NM_022965.4:c.504C>T
• NP_000133.1:p.Ala168=
• NP_001156685.1:p.Ala168=
• NP_001341738.1:p.Ala168=
• NP_001341739.1:p.Ala168=
• NP_075254.1:p.Ala168=
• LRG_1021t1:c.504C>T
• LRG_1021:g.13114C>T
• NC_000004.11:g.1803152C>T
• NR_148971.2:n.779C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs543545800

NCBI 1000 Genomes Browser:

rs543545800

Molecular consequence:

• NR_148971.2:n.779C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000142.5:c.504C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001163213.2:c.504C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354809.2:c.504C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354810.2:c.504C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022965.4:c.504C>T - synonymous variant - [Sequence Ontology: SO:0001819]