chr4:1805396:A>G Detail (hg38) (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	chr4:1,807,123-1,807,123 View the variant detail on this assembly version.
hg38	chr4:1,805,396-1,805,396

HGVS

FGFR3

Type	Transcript	Protein
RefSeq	NM_001163213.1:c.1460A>G	NP_001156685.1:p.Gln487Arg
	NM_022965.3:c.1442A>G	NP_075254.1:p.Gln481Arg
	NM_000142.4:c.1454A>G	NP_000133.1:p.Gln485Arg
Ensemble	ENST00000340107.9:c.1460A>G	ENST00000340107.9:p.Gln487Arg
	ENST00000352904.6:c.1118A>G	ENST00000352904.6:p.Gln373Arg
	ENST00000412135.7:c.1442A>G	ENST00000412135.7:p.Gln481Arg
	ENST00000440486.8:c.1454A>G	ENST00000440486.8:p.Gln485Arg
	ENST00000481110.7:c.1457A>G	ENST00000481110.7:p.Gln486Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	no classification for the single variant
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	2009-06-01	no assertion criteria provided	Thanatophoric dysplasia type 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.457	THANATOPHORIC DYSPLASIA, TYPE I (disorder)	NA	CLINVAR		Detail
0.457	THANATOPHORIC DYSPLASIA, TYPE I (disorder)	Here, we report a unique patient with thanatophoric dysplasia and a double de no...	BeFree	19449430	Detail
0.150	thanatophoric dysplasia	Here, we report a unique patient with thanatophoric dysplasia and a double de no...	BeFree	19449430	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000142.4(FGFR3):c.[1454A>G;1620C>A] AND Thanatophoric dysplasia type 1	ClinVar	Detail
NA	DisGeNET	Detail
Here, we report a unique patient with thanatophoric dysplasia and a double de novo FGFR3 mutation, l...	DisGeNET	Detail
Here, we report a unique patient with thanatophoric dysplasia and a double de novo FGFR3 mutation, l...	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: rs267606808 dbSNP
Genome: hg38
Position: chr4:1,805,396-1,805,396
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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