chr4:1806111:T>G 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	chr4:1,806,111-1,806,111
hg38	chr4:1,804,384-1,804,384 View the variant detail on this assembly version.

HGVS

FGFR3

Type	Transcript	Protein
RefSeq	NM_001163213.1:c.1136T>G	NP_001156685.1:p.Leu379Arg
	NM_022965.3:c.1118T>G	NP_075254.1:p.Leu373Arg
	NM_000142.4:c.1130T>G	NP_000133.1:p.Leu377Arg
Ensemble	ENST00000340107.9:c.1136T>G	ENST00000340107.9:p.Leu379Arg
	ENST00000352904.6:c.931-440T>G
	ENST00000412135.7:c.1118T>G	ENST00000412135.7:p.Leu373Arg
	ENST00000440486.8:c.1130T>G	ENST00000440486.8:p.Leu377Arg
	ENST00000481110.7:c.1130T>G	ENST00000481110.7:p.Leu377Arg

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
Pathogenic	2006-02-01	no assertion criteria provided	achondroplasia	germline	Detail
Uncertain significance	2022-01-12	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.621	achondroplasia	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000142.4(FGFR3):c.[1130T>G;1138G>A] AND Achondroplasia	ClinVar	Detail
NM_000142.5(FGFR3):c.1130T>G (p.Leu377Arg) AND not provided	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: rs267606809 dbSNP
Genome: hg19
Position: chr4:1,806,111-1,806,111
Variant Type: snv
Reference Allele: T
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8626
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 119268
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): 8.38447865311735E-6

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