chr4:54285934:CATGATTCGAAC> Detail (hg38) (PDGFRA)

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

Genome

Assembly	Position
hg19	chr4:55,152,101-55,152,112
hg38	chr4:54,285,934-54,285,945

HGVS

PDGFRA

Type	Transcript	Protein
RefSeq	NM_006206.4:c.2533_2544delCATGATTCGAAC	NP_006197.1:p.His845_Asn848del
Ensemble	ENST00000257290.10:c.2533_2544delCATGATTCGAAC	ENST00000257290.10:p.His845_Asn848del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

PDGFRA

Type	Database	ID	Link
Gene	MIM	173490	OMIM
	HGNC	8803	HGNC
	Ensembl	ENSG00000134853	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	2003-01-31	no assertion criteria provided	gastrointestinal stromal tumor	somatic	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.616	Gastrointestinal Stromal Tumors	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_006206.6(PDGFRA):c.2533_2544del (p.His845_Asn848del) AND Gastrointestinal stromal tumor	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: rs587776793 dbSNP
Genome: hg38
Position: chr4:54,285,934-54,285,945
Variant Type: snv
Reference Allele: CATGATTCGAAC
Alternative Allele: -

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