chr2:47375300:G>T Detail (hg38) (EPCAM)

Information

Genome

Assembly Position
hg19 chr2:47,602,439-47,602,439 View the variant detail on this assembly version.
hg38 chr2:47,375,300-47,375,300

HGVS

Type Transcript Protein
RefSeq NM_002354.2:c.491+1G>T
Ensemble ENST00000263735.9:c.491+1G>T
ENST00000405271.5:c.575+1G>T
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 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 2021-09-07 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms 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.491+1G>T AND Hereditary nonpolyposis colorectal neoplasms ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs606231203 dbSNP
Genome
hg38
Position
chr2:47,375,300-47,375,300
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8598
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)
120174
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)
8.32126749546491E-6
Genome browser