chr16:68812144:A>T Detail (hg38) (CDH1)

Information

Genome

Assembly Position
hg19 chr16:68,846,047-68,846,047 View the variant detail on this assembly version.
hg38 chr16:68,812,144-68,812,144

HGVS

Type Transcript Protein
RefSeq NM_001317184.1:c.1018A>T NP_001304113.1:p.Thr340Ser
NM_001317186.1:c.1018A>T NP_001304115.1:p.Thr340Ser
NM_004360.4:c.1018A>T NP_004351.1:p.Thr340Ser
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 Uncertain significance
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
Uncertain significance 2023-01-13 criteria provided, single submitter not provided germline Detail
Uncertain significance 2023-11-25 criteria provided, multiple submitters, no conflicts Hereditary diffuse gastric adenocarcinoma germline Detail
Uncertain significance 2023-05-15 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.008 colorectal carcinoma The E-cadherin gene (CDH1) variants T340A and L599V in gastric and colorectal ca... BeFree 10896919 Detail
0.389 hereditary diffuse gastric cancer NA CLINVAR Detail
0.123 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.171 colorectal cancer The E-cadherin gene (CDH1) variants T340A and L599V in gastric and colorectal ca... BeFree 10896919 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004360.5(CDH1):c.1018A>T (p.Thr340Ser) AND not provided ClinVar Detail
NM_004360.5(CDH1):c.1018A>T (p.Thr340Ser) AND Hereditary diffuse gastric adenocarcinoma ClinVar Detail
NM_004360.5(CDH1):c.1018A>T (p.Thr340Ser) AND Hereditary cancer-predisposing syndrome ClinVar Detail
The E-cadherin gene (CDH1) variants T340A and L599V in gastric and colorectal cancer patients in Kor... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The E-cadherin gene (CDH1) variants T340A and L599V in gastric and colorectal cancer patients in Kor... 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
rs116093741 dbSNP
Genome
hg38
Position
chr16:68,812,144-68,812,144
Variant Type
snv
Reference Allele
A
Alternative Allele
T
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)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.236418146476461E-6
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