chr2:47377012:A>G Detail (hg38) (EPCAM)

Information

Genome

Assembly Position
hg19 chr2:47,604,151-47,604,151 View the variant detail on this assembly version.
hg38 chr2:47,377,012-47,377,012

HGVS

Type Transcript Protein
RefSeq NM_002354.2:c.492-2A>G
Ensemble ENST00000263735.9:c.492-2A>G
ENST00000405271.5:c.576-2A>G
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 185535 OMIM
HGNC 11529 HGNC
Ensembl ENSG00000119888 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 2013-07-01 no assertion criteria provided congenital diarrhea 5 with tufting enteropathy germline Detail
Pathogenic 2017-09-11 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.562 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002354.3(EPCAM):c.492-2A>G AND Congenital diarrhea 5 with tufting enteropathy ClinVar Detail
NM_002354.3(EPCAM):c.492-2A>G AND not provided ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs606231281 dbSNP
Genome
hg38
Position
chr2:47,377,012-47,377,012
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser