chr16:68823461:C> 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	chr16:68,857,364-68,857,364
hg38	chr16:68,823,461-68,823,461

HGVS

CDH1

Type	Transcript	Protein
RefSeq	NM_001317184.1:c.1999delC	NP_001304113.1:p.Leu667SerfsTer12
	NM_001317186.1:c.1999delC	NP_001304115.1:p.Leu667SerfsTer12
	NM_004360.4:c.1999delC	NP_004351.1:p.Leu667SerfsTer12
Ensemble	ENST00000261769.10:c.1999delC	ENST00000261769.10:p.Leu667SerfsTer12
	ENST00000422392.6:c.1816delC	ENST00000422392.6:p.Leu606SerfsTer12

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

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-03-05	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2022-03-11	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2023-10-25	criteria provided, multiple submitters, no conflicts	Hereditary diffuse gastric adenocarcinoma	germline unknown	Detail
Pathogenic	2021-12-09	criteria provided, single submitter		germline	Detail
Pathogenic	2023-08-25	reviewed by expert panel	CDH1-related diffuse gastric and lobular breast cancer syndrome	germline	Detail
Pathogenic	2023-10-08	criteria provided, single submitter	Familial cancer of breast	unknown	Detail

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
NM_004360.5(CDH1):c.1999del (p.Leu667fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_004360.5(CDH1):c.1999del (p.Leu667fs) AND not provided	ClinVar	Detail
NM_004360.5(CDH1):c.1999del (p.Leu667fs) AND Hereditary diffuse gastric adenocarcinoma	ClinVar	Detail
NM_004360.5(CDH1):c.1999del (p.Leu667fs) AND Malignant tumor of breast	ClinVar	Detail
NM_004360.5(CDH1):c.1999del (p.Leu667fs) AND CDH1-related diffuse gastric and lobular breast cancer ...	ClinVar	Detail
NM_004360.5(CDH1):c.1999del (p.Leu667fs) AND Familial cancer of breast	ClinVar	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: rs786202033 dbSNP
Genome: hg38
Position: chr16:68,823,461-68,823,461
Variant Type: snv
Reference Allele: C
Alternative Allele: -

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