chr7:92234485:TCTA> Detail (hg38) (KRIT1)

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

Genome

Assembly	Position
hg19	chr7:91,863,799-91,863,802
hg38	chr7:92,234,485-92,234,488

HGVS

KRIT1

Type	Transcript	Protein
RefSeq	NM_004912.3:c.950_953delTAGA	NP_004903.2:p.Asp318ValfsTer23
	NM_194455.1:c.950_953delTAGA	NP_919437.1:p.Asp318ValfsTer23
	NM_001013406.1:c.845+320_845+323delTAGA
	NM_194454.1:c.950_953delTAGA	NP_919436.1:p.Asp318ValfsTer23
	NM_194456.1:c.950_953delTAGA	NP_919438.1:p.Asp318ValfsTer23
Ensemble	ENST00000340022.6:c.950_953delTAGA	ENST00000340022.6:p.Asp318ValfsTer23
	ENST00000394503.6:c.845+320_845+323delTAGA
	ENST00000394505.7:c.950_953delTAGA	ENST00000394505.7:p.Asp318ValfsTer23
	ENST00000394507.5:c.950_953delTAGA	ENST00000394507.5:p.Asp318ValfsTer23
	ENST00000412043.6:c.950_953delTAGA	ENST00000412043.6:p.Asp318ValfsTer23
	ENST00000425073.2:c.950_953delTAGA	ENST00000425073.2:p.Asp318ValfsTer23
	ENST00000444960.6:c.950_953delTAGA	ENST00000444960.6:p.Asp318ValfsTer23
	ENST00000454017.6:c.950_953delTAGA	ENST00000454017.6:p.Asp318ValfsTer23
	ENST00000458177.7:c.950_953delTAGA	ENST00000458177.7:p.Asp318ValfsTer23
	ENST00000686094.1:c.950_953delTAGA	ENST00000686094.1:p.Asp318ValfsTer23
	ENST00000686527.1:c.950_953delTAGA	ENST00000686527.1:p.Asp318ValfsTer23
	ENST00000687135.1:c.950_953delTAGA	ENST00000687135.1:p.Asp318ValfsTer23
	ENST00000688404.1:c.950_953delTAGA	ENST00000688404.1:p.Asp318ValfsTer23
	ENST00000688665.1:c.950_953delTAGA	ENST00000688665.1:p.Asp318ValfsTer23
	ENST00000689556.1:c.845+320_845+323delTAGA
	ENST00000690529.1:c.950_953delTAGA	ENST00000690529.1:p.Asp318ValfsTer23
	ENST00000690720.1:c.950_953delTAGA	ENST00000690720.1:p.Asp318ValfsTer23
	ENST00000690908.1:c.845+320_845+323delTAGA
	ENST00000692157.1:c.950_953delTAGA	ENST00000692157.1:p.Asp318ValfsTer23
	ENST00000692807.1:c.950_953delTAGA	ENST00000692807.1:p.Asp318ValfsTer23

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

KRIT1

Type	Database	ID	Link
Gene	MIM	604214	OMIM
	HGNC	1573	HGNC
	Ensembl	ENSG00000001631	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	2020-05-21	criteria provided, single submitter	cerebral cavernous malformation 1	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_194454.3(KRIT1):c.953_956del (p.Asp318fs) AND Cerebral cavernous malformation 1	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: -
Genome: hg38
Position: chr7:92,234,485-92,234,488
Variant Type: snv
Reference Allele: TCTA
Alternative Allele: -

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