GATA1 p.Asp123Glu (p.D123E) Detail (hg38) (GATA1)

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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:48,650,399-48,650,399
hg38	chrX:48,791,992-48,791,992

HGVS

GATA1

Type	Transcript	Protein
RefSeq	NM_002049.3:c.369T>A	NP_002040.1:p.Asp123Glu
Ensemble	ENST00000376665.4:c.369T>A	ENST00000376665.4:p.Asp123Glu
	ENST00000376670.9:c.369T>A	ENST00000376670.9:p.Asp123Glu
	ENST00000651144.2:c.120T>A	ENST00000651144.2:p.Asp40Glu
	ENST00000696450.1:c.369T>A	ENST00000696450.1:p.Asp123Glu
	ENST00000696451.1:c.120T>A	ENST00000696451.1:p.Asp40Glu
	ENST00000696452.1:c.120T>A	ENST00000696452.1:p.Asp40Glu

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

GATA1

Type	Database	ID	Link
Gene	MIM	305371	OMIM
	HGNC	4170	HGNC
	Ensembl	ENSG00000102145	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	2018/03/08	squamous cell carcinoma of the hypopharynx	somatic	MGS000017 (TMGS000052)	Kohei Miyazono	Tokyo University

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: hg38
Position: chrX:48,791,992-48,791,992
Variant Type: snv
Reference Allele: T
Alternative Allele: A

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