chr16:68819427:TAAGGG> Detail (hg38) (CDH1)

Information

Genome

Assembly Position
hg19 chr16:68,853,330-68,853,335 
hg38 chr16:68,819,427-68,819,432

HGVS

Type Transcript Protein
RefSeq NM_001317184.1:c.1711+2_1711+7delTAAGGG
NM_001317186.1:c.1711+2_1711+7delTAAGGG
NM_004360.4:c.1711+2_1711+7delTAAGGG
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
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 Likely pathogenic 2022-08-15 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2023-06-14 criteria provided, multiple submitters, no conflicts Hereditary diffuse gastric adenocarcinoma germline unknown Detail
Likely pathogenic 2023-08-24 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.1711+2_1711+7del AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_004360.5(CDH1):c.1711+2_1711+7del AND Hereditary diffuse gastric adenocarcinoma ClinVar Detail
NM_004360.5(CDH1):c.1711+2_1711+7del AND CDH1-related diffuse gastric and lobular breast cancer synd... ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs786203089 dbSNP
Genome
hg38
Position
chr16:68,819,427-68,819,432
Variant Type
snv
Reference Allele
TAAGGG
Alternative Allele
-
Genome browser