chr4:1803568:C>T Detail (hg19) (FGFR3)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr4:1,803,568-1,803,568
hg38	chr4:1,801,841-1,801,841 View the variant detail on this assembly version.

HGVS

FGFR3

Type	Transcript	Protein
RefSeq	NM_001163213.1:c.746C>T	NP_001156685.1:p.Ser249Phe
	NM_022965.3:c.734C>T	NP_075254.1:p.Ser245Phe
	NM_000142.4:c.746C>T	NP_000133.1:p.Ser249Phe
Ensemble	ENST00000340107.9:c.746C>T	ENST00000340107.9:p.Ser249Phe
	ENST00000352904.6:c.746C>T	ENST00000352904.6:p.Ser249Phe
	ENST00000412135.7:c.734C>T	ENST00000412135.7:p.Ser245Phe
	ENST00000440486.8:c.746C>T	ENST00000440486.8:p.Ser249Phe
	ENST00000481110.7:c.746C>T	ENST00000481110.7:p.Ser249Phe

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

Links

FGFR3

Type	Database	ID	Link
Gene	MIM	134934	OMIM
	HGNC	3690	HGNC
	Ensembl	ENSG00000068078	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2022-09-09	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.457	THANATOPHORIC DYSPLASIA, TYPE I (disorder)	NA	CLINVAR		Detail
0.275	Malignant neoplasm of urinary bladder	Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372...	BeFree	21264819	Detail
0.150	thanatophoric dysplasia	When the results of the FGFR3 thanatophoric dysplasia mutations located in exon ...	BeFree	21264819	Detail
0.019	Carcinoma of bladder	Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372...	BeFree	21264819	Detail
0.457	THANATOPHORIC DYSPLASIA, TYPE I (disorder)	When the results of the FGFR3 thanatophoric dysplasia mutations located in exon ...	BeFree	21264819	Detail
0.255	seborrheic keratosis	NA	CLINVAR		Detail
0.019	Carcinoma of bladder	Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic targ...	BeFree	17384684	Detail
<0.001	Carcinoma of urinary bladder, superficial	These results indicate that targeted inhibition of S249C FGFR3 may represent a u...	BeFree	17384684	Detail
0.275	Malignant neoplasm of urinary bladder	Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic targ...	BeFree	17384684	Detail
0.004	squamous cell carcinoma	Fibroblast growth factor receptor 3 S249C mutation in virus associated squamous ...	BeFree	11605053	Detail
0.242	cervix carcinoma	NA	CLINVAR		Detail
0.275	Malignant neoplasm of urinary bladder	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000142.5(FGFR3):c.746C>T (p.Ser249Phe) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372C, and T375C mutatio...	DisGeNET	Detail
When the results of the FGFR3 thanatophoric dysplasia mutations located in exon 7, A248C and S249C a...	DisGeNET	Detail
Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372C, and T375C mutatio...	DisGeNET	Detail
When the results of the FGFR3 thanatophoric dysplasia mutations located in exon 7, A248C and S249C a...	DisGeNET	Detail
NA	DisGeNET	Detail
Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer...	DisGeNET	Detail
These results indicate that targeted inhibition of S249C FGFR3 may represent a useful therapeutic ap...	DisGeNET	Detail
Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer...	DisGeNET	Detail
Fibroblast growth factor receptor 3 S249C mutation in virus associated squamous cell carcinomas.	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs121913483 dbSNP
Genome: hg19
Position: chr4:1,803,568-1,803,568
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 7854
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.2732365673542143E-4
Chromosome Counts in All Race (ExAC): 103586
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 9.653814221999111E-6

Genome browser