chr8:38424658:C>T Detail (hg38) (FGFR1)

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

Genome

Assembly	Position
hg19	chr8:38,282,176-38,282,176 View the variant detail on this assembly version.
hg38	chr8:38,424,658-38,424,658

HGVS

FGFR1

Type	Transcript	Protein
RefSeq	NM_023106.2:c.514G>A	NP_075594.1:p.Ala172Thr
	NM_001174064.1:c.763G>A	NP_001167535.1:p.Ala255Thr
	NM_023105.2:c.520G>A	NP_075593.1:p.Ala174Thr
	NM_001174065.1:c.781G>A	NP_001167536.1:p.Ala261Thr
	NM_001174066.1:c.781G>A	NP_001167537.1:p.Ala261Thr
	NM_001174067.1:c.781G>A	NP_001167538.1:p.Ala261Thr
	NM_015850.3:c.787G>A	NP_056934.2:p.Ala263Thr
	NM_023110.2:c.787G>A	NP_075598.2:p.Ala263Thr
	NM_001174063.1:c.787G>A	NP_001167534.1:p.Ala263Thr
Ensemble	ENST00000326324.10:c.514G>A	ENST00000326324.10:p.Ala172Thr
	ENST00000335922.9:c.763G>A	ENST00000335922.9:p.Ala255Thr
	ENST00000341462.9:c.781G>A	ENST00000341462.9:p.Ala261Thr
	ENST00000356207.9:c.520G>A	ENST00000356207.9:p.Ala174Thr
	ENST00000397091.9:c.781G>A	ENST00000397091.9:p.Ala261Thr
	ENST00000397103.5:c.514G>A	ENST00000397103.5:p.Ala172Thr
	ENST00000397108.8:c.781G>A	ENST00000397108.8:p.Ala261Thr
	ENST00000397113.6:c.781G>A	ENST00000397113.6:p.Ala261Thr
	ENST00000425967.8:c.781G>A	ENST00000425967.8:p.Ala261Thr
	ENST00000447712.7:c.787G>A	ENST00000447712.7:p.Ala263Thr
	ENST00000532791.5:c.787G>A	ENST00000532791.5:p.Ala263Thr
	ENST00000683765.1:c.781G>A	ENST00000683765.1:p.Ala261Thr
	ENST00000683815.1:c.781G>A	ENST00000683815.1:p.Ala261Thr
	ENST00000684654.1:c.514G>A	ENST00000684654.1:p.Ala172Thr
	ENST00000703405.1:c.781G>A	ENST00000703405.1:p.Ala261Thr

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	Benign Likely benign
Review star
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Links

FGFR1

Type	Database	ID	Link
Gene	MIM	136350	OMIM
	HGNC	3688	HGNC
	Ensembl	ENSG00000077782	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
Likely benign	2018-01-13	criteria provided, single submitter	Craniosynostosis syndrome	germline	Detail
Likely benign	2018-01-13	criteria provided, single submitter	hypogonadotropic hypogonadism 2 with or without anosmia	germline	Detail
Benign	2018-01-13	criteria provided, single submitter	Trigonocephaly 1	germline	Detail
Benign	2018-01-13	criteria provided, single submitter	osteoglophonic dysplasia	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_023110.3(FGFR1):c.787G>A (p.Ala263Thr) AND Craniosynostosis syndrome	ClinVar	Detail
NM_023110.3(FGFR1):c.787G>A (p.Ala263Thr) AND Hypogonadotropic hypogonadism 2 with or without anosmi...	ClinVar	Detail
NM_023110.3(FGFR1):c.787G>A (p.Ala263Thr) AND Trigonocephaly 1	ClinVar	Detail
NM_023110.3(FGFR1):c.787G>A (p.Ala263Thr) AND Osteoglophonic dysplasia	ClinVar	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: rs747978107 dbSNP
Genome: hg38
Position: chr8:38,424,658-38,424,658
Variant Type: snv
Reference Allele: C
Alternative Allele: T
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): 120526
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.489089491064169E-5

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