chr4:1808989:A>T Detail (hg19) (FGFR3)

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

Genome

Assembly	Position
hg19	chr4:1,808,989-1,808,989
hg38	chr4:1,807,262-1,807,262 View the variant detail on this assembly version.

HGVS

FGFR3

Type	Transcript	Protein
RefSeq	NM_001163213.1:c.2427A>T	NP_001156685.1:p.Ter809Cysext*?
	NM_022965.3:c.2409A>T	NP_075254.1:p.Ter803Cysext*?
	NM_000142.4:c.2421A>T	NP_000133.1:p.Ter807Cysext*?
Ensemble	ENST00000340107.9:c.2427A>T	ENST00000340107.9:p.Ter809Cysext*?
	ENST00000352904.6:c.2085A>T	ENST00000352904.6:p.Ter695Cysext*?
	ENST00000412135.7:c.2409A>T	ENST00000412135.7:p.Ter803Cysext*?
	ENST00000440486.8:c.2421A>T	ENST00000440486.8:p.Ter807Cysext*?
	ENST00000481110.7:c.2353A>T	ENST00000481110.7:p.Lys785Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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
Pathogenic	1996-04-01	no assertion criteria provided	Thanatophoric dysplasia type 1	germline unknown	Detail
Pathogenic	2021-11-30	no assertion criteria provided		germline	Detail
Pathogenic	2023-09-09	criteria provided, single submitter	FGFR3-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.457	THANATOPHORIC DYSPLASIA, TYPE I (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000142.5(FGFR3):c.2421A>T (p.Ter807Cys) AND Thanatophoric dysplasia type 1	ClinVar	Detail
NM_000142.5(FGFR3):c.2421A>T (p.Ter807Cys) AND See cases	ClinVar	Detail
NM_000142.5(FGFR3):c.2421A>T (p.Ter807Cys) AND FGFR3-related disorder	ClinVar	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: rs121913103 dbSNP
Genome: hg19
Position: chr4:1,808,989-1,808,989
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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