chr16:68823526:TG> Detail (hg38) (CDH1)

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

Genome

Assembly	Position
hg19	chr16:68,857,429-68,857,430
hg38	chr16:68,823,526-68,823,527

HGVS

CDH1

Type	Transcript	Protein
RefSeq	NM_001317184.1:c.2064_2065delTG	NP_001304113.1:p.Cys688Ter
	NM_001317186.1:c.2064_2065delTG	NP_001304115.1:p.Cys688Ter
	NM_004360.4:c.2064_2065delTG	NP_004351.1:p.Cys688Ter
Ensemble	ENST00000261769.10:c.2064_2065delTG	ENST00000261769.10:p.Cys688Ter
	ENST00000422392.6:c.1881_1882delTG	ENST00000422392.6:p.Cys627Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

CDH1

Type	Database	ID	Link
Gene	MIM	192090	OMIM
	HGNC	1748	HGNC
	Ensembl	ENSG00000039068	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM6856792	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.389	hereditary diffuse gastric cancer	NA	CLINVAR		Detail
0.123	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	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: rs587781276 dbSNP
Genome: hg38
Position: chr16:68,823,526-68,823,527
Variant Type: snv
Reference Allele: TG
Alternative Allele: -

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