RUNX1 c.532+25050_532+25051insCA Detail (hg19) (RUNX1)

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

Genome

Assembly	Position
hg19	chr21:36,206,720-36,206,720
hg38	chr21:34,834,423-34,834,423

HGVS

RUNX1

Type	Transcript	Protein
RefSeq	NM_001122607.1:c.710_711insCA	NP_001116079.1:p.Ser238GlnfsTer30
	NM_001001890.2:c.710_711insCA	NP_001001890.1:p.Ser238GlnfsTer47
Ensemble	ENST00000399240.5:c.532+25050_532+25051insCA
	ENST00000358356.9:c.710_711insCA	ENST00000358356.9:p.Ser238GlnfsTer30
	ENST00000300305.7:c.791_792insCA	ENST00000300305.7:p.Ser265GlnfsTer47
	ENST00000344691.8:c.710_711insCA	ENST00000344691.8:p.Ser238GlnfsTer47
	ENST00000675419.1:c.791_792insCA	ENST00000675419.1:p.Ser265GlnfsTer47

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

RUNX1

Type	Database	ID	Link
Gene	MIM	151385	OMIM
	HGNC	10471	HGNC
	Ensembl	ENSG00000159216	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: chr21:36,206,720-36,206,720
Variant Type: snv
Reference Allele: -
Alternative Allele: TG

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