chr16:68812135:AG> 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	chr16:68,846,038-68,846,039
hg38	chr16:68,812,135-68,812,136

HGVS

CDH1

Type	Transcript	Protein
RefSeq	NM_001317184.1:c.1009_1010delAG	NP_001304113.1:p.Ser337PhefsTer12
	NM_001317186.1:c.1009_1010delAG	NP_001304115.1:p.Ser337PhefsTer12
	NM_004360.4:c.1009_1010delAG	NP_004351.1:p.Ser337PhefsTer12
Ensemble	ENST00000261769.10:c.1009_1010delAG	ENST00000261769.10:p.Ser337PhefsTer12
	ENST00000422392.6:c.1009_1010delAG	ENST00000422392.6:p.Ser337PhefsTer12

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	COSM19541	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.123	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
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: rs786201045 dbSNP
Genome: hg38
Position: chr16:68,812,135-68,812,136
Variant Type: snv
Reference Allele: AG
Alternative Allele: -

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