chr16:68846052:T>C Detail (hg19) (CDH1)

Information

Genome

Assembly Position
hg19 chr16:68,846,052-68,846,052
hg38 chr16:68,812,149-68,812,149 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001317184.1:c.1023T>C NP_001304113.1:p.Tyr341=
NM_001317186.1:c.1023T>C NP_001304115.1:p.Tyr341=
NM_004360.4:c.1023T>C NP_004351.1:p.Tyr341=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Likely benign
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2023-12-29 criteria provided, multiple submitters, no conflicts Hereditary diffuse gastric adenocarcinoma germline Detail
Likely benign 2016-03-01 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Likely benign 2017-04-27 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.389 hereditary diffuse gastric cancer NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004360.5(CDH1):c.1023T>C (p.Tyr341=) AND Hereditary diffuse gastric adenocarcinoma ClinVar Detail
NM_004360.5(CDH1):c.1023T>C (p.Tyr341=) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_004360.5(CDH1):c.1023T>C (p.Tyr341=) AND not specified 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
rs587776398 dbSNP
Genome
hg19
Position
chr16:68,846,052-68,846,052
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121412
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.11820907323823E-5
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