chr16:68853328:G>A Detail (hg19) (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	chr16:68,853,328-68,853,328
hg38	chr16:68,819,425-68,819,425 View the variant detail on this assembly version.

HGVS

CDH1

Type	Transcript	Protein
RefSeq	NM_001317184.1:c.1711G>A	NP_001304113.1:p.Gly571Ser
	NM_001317186.1:c.1711G>A	NP_001304115.1:p.Gly571Ser
	NM_004360.4:c.1711G>A	NP_004351.1:p.Gly571Ser
Ensemble	ENST00000422392.6:c.1528G>A	ENST00000422392.6:p.Gly510Ser
	ENST00000261769.10:c.1711G>A	ENST00000261769.10:p.Gly571Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
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	COSM19766	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2022-02-10	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2019-09-01	no assertion criteria provided	Familial cancer of breast,Hereditary diffuse gastric adenocarcinoma	germline	Detail
Pathogenic	2019-09-01	no assertion criteria provided	Familial cancer of breast,Hereditary diffuse gastric adenocarcinoma	germline	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.1711G>A (p.Gly571Ser) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_004360.5(CDH1):c.1711G>A (p.Gly571Ser) AND multiple conditions	ClinVar	Detail
NM_004360.5(CDH1):c.1711G>A (p.Gly571Ser) AND multiple conditions	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: rs786202290 dbSNP
Genome: hg19
Position: chr16:68,853,328-68,853,328
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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