PIGA c.341+119C>T Detail (hg19) (PIGA)

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

Genome

Assembly	Position
hg19	chrX:15,349,593-15,349,593
hg38	chrX:15,331,471-15,331,471

HGVS

PIGA

Type	Transcript	Protein
RefSeq	NM_002641.3:c.460C>T	NP_002632.1:p.His154Tyr
	NM_020473.3:c.13+4030C>T
Ensemble	ENST00000482148.6:c.341+119C>T
	ENST00000542278.6:c.460C>T	ENST00000542278.6:p.His154Tyr
	ENST00000333590.6:c.460C>T	ENST00000333590.6:p.His154Tyr
	ENST00000634582.1:c.13+4030C>T
	ENST00000637296.1:c.-314-172C>T

Summary

MGeND

Clinical significance	not provided
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

PIGA

Type	Database	ID	Link
Gene	MIM	311770	OMIM
	HGNC	8957	HGNC
	Ensembl	ENSG00000165195	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		Myelodysplastic syndromes	somatic	MGS000005 (TMGS000006)	Keizo Horibe	National Hospital Organization Nagoya Medical Center

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

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: -
Genome: hg19
Position: chrX:15,349,593-15,349,593
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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