chr8:38417331:G>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	chr8:38,274,849-38,274,849 View the variant detail on this assembly version.
hg38	chr8:38,417,331-38,417,331

HGVS

FGFR1

Type	Transcript	Protein
RefSeq	NM_015850.3:c.1638C>A	NP_056934.2:p.Asn546Lys
	NM_023110.2:c.1638C>A	NP_075598.2:p.Asn546Lys
	NM_023106.2:c.1365C>A	NP_075594.1:p.Asn455Lys
	NM_001174064.1:c.1608C>A	NP_001167535.1:p.Asn536Lys
	NM_023105.2:c.1371C>A	NP_075593.1:p.Asn457Lys
	NM_001174065.1:c.1632C>A	NP_001167536.1:p.Asn544Lys
	NM_001174066.1:c.1632C>A	NP_001167537.1:p.Asn544Lys
	NM_001174067.1:c.1626C>A	NP_001167538.1:p.Asn542Lys
	NM_001174063.1:c.1632C>A	NP_001167534.1:p.Asn544Lys
Ensemble	ENST00000447712.7:c.1638C>A	ENST00000447712.7:p.Asn546Lys
	ENST00000326324.10:c.1365C>A	ENST00000326324.10:p.Asn455Lys
	ENST00000335922.9:c.1608C>A	ENST00000335922.9:p.Asn536Lys
	ENST00000341462.9:c.1626C>A	ENST00000341462.9:p.Asn542Lys
	ENST00000356207.9:c.1371C>A	ENST00000356207.9:p.Asn457Lys
	ENST00000397091.9:c.1632C>A	ENST00000397091.9:p.Asn544Lys
	ENST00000397103.5:c.1371C>A	ENST00000397103.5:p.Asn457Lys
	ENST00000397108.8:c.1632C>A	ENST00000397108.8:p.Asn544Lys
	ENST00000397113.6:c.1632C>A	ENST00000397113.6:p.Asn544Lys
	ENST00000425967.8:c.1626C>A	ENST00000425967.8:p.Asn542Lys
	ENST00000532791.5:c.1632C>A	ENST00000532791.5:p.Asn544Lys
	ENST00000683765.1:c.1818C>A	ENST00000683765.1:p.Asn606Lys
	ENST00000683815.1:c.1626C>A	ENST00000683815.1:p.Asn542Lys
	ENST00000684654.1:c.1359C>A	ENST00000684654.1:p.Asn453Lys
	ENST00000703405.1:c.1638C>A	ENST00000703405.1:p.Asn546Lys

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

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	COSM3670398	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic		criteria provided, single submitter	Encephalocraniocutaneous lipomatosis	somatic unknown	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	gastric adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	neuroblastoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided		somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	medulloblastoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Astrocytoma	somatic	Detail
Pathogenic		criteria provided, single submitter		somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
Ewing sarcoma of bone	Ponatinib	E	Predictive	Supports	Sensitivity/Response	Somatic	2	26179511	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
116 Ewing's sarcoma tumor samples were analyzed in this study. 2 patient's samples underwent whole g...	CIViC Evidence	Detail
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) AND Encephalocraniocutaneous lipomatosis	ClinVar	Detail
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) AND Gastric adenocarcinoma	ClinVar	Detail
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) AND Neuroblastoma	ClinVar	Detail
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) AND Brainstem glioma	ClinVar	Detail
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) AND Medulloblastoma	ClinVar	Detail
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) AND Astrocytoma	ClinVar	Detail
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) AND Rosette-forming glioneuronal tumor	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: rs779707422 dbSNP
Genome: hg38
Position: chr8:38,417,331-38,417,331
Variant Type: snv
Reference Allele: G
Alternative Allele: T
Variant (CIViC) (CIViC Variant): N546K
Transcript 1 (CIViC Variant): ENST00000341462.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/515

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