chr16:68813322:C>T Detail (hg38) (CDH1)

Information

Genome

Assembly Position
hg19 chr16:68,847,225-68,847,225 View the variant detail on this assembly version.
hg38 chr16:68,813,322-68,813,322

HGVS

Type Transcript Protein
RefSeq NM_001317184.1:c.1147C>T NP_001304113.1:p.Gln383Ter
NM_001317186.1:c.1147C>T NP_001304115.1:p.Gln383Ter
NM_004360.4:c.1147C>T NP_004351.1:p.Gln383Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
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 COSM3818350 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-06-27 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter Hereditary diffuse gastric adenocarcinoma,endometrial carcinoma,blepharocheilodontic syndrome 1,Neoplasm of ovary,Familial cancer of breast,Malignant tumor of prostate unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Hereditary diffuse gastric adenocarcinoma,endometrial carcinoma,blepharocheilodontic syndrome 1,Neoplasm of ovary,Familial cancer of breast,Malignant tumor of prostate unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Hereditary diffuse gastric adenocarcinoma,endometrial carcinoma,blepharocheilodontic syndrome 1,Neoplasm of ovary,Familial cancer of breast,Malignant tumor of prostate unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Hereditary diffuse gastric adenocarcinoma,endometrial carcinoma,blepharocheilodontic syndrome 1,Neoplasm of ovary,Familial cancer of breast,Malignant tumor of prostate unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Hereditary diffuse gastric adenocarcinoma,endometrial carcinoma,blepharocheilodontic syndrome 1,Neoplasm of ovary,Familial cancer of breast,Malignant tumor of prostate unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Hereditary diffuse gastric adenocarcinoma,endometrial carcinoma,blepharocheilodontic syndrome 1,Neoplasm of ovary,Familial cancer of breast,Malignant tumor of prostate unknown Detail
Pathogenic 2022-08-01 criteria provided, multiple submitters, no conflicts Hereditary diffuse gastric adenocarcinoma germline Detail
Pathogenic 2023-08-25 reviewed by expert panel CDH1-related diffuse gastric and lobular breast cancer syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.123 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) AND multiple conditions ClinVar Detail
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) AND Hereditary diffuse gastric adenocarcinoma ClinVar Detail
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) AND CDH1-related diffuse gastric and lobular breast cancer... 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
rs587782798 dbSNP
Genome
hg38
Position
chr16:68,813,322-68,813,322
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser