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Results for "CLDN1"

Variant Events: 10

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
CLDN1     13322.p1chr3:
190030680-190030680
ACexonicMosaicsynonymous SNVNM_021101c.T369Gp.G123G-8.238E-6Krupp2017 E
CLDN1     2-1245-003chr3:
190033946-190033946
AGintronicDe novo--Yuen2017 G
CLDN1     AU3649304chr3:
190060167-190060167
TCintergenicDe novo--Yuen2017 G
CLDN1     AU3875301chr3:
190103304-190103304
CGintergenicDe novo--Yuen2017 G
CLDN1     2-0122-004chr3:
189920750-189920750
TGintergenicDe novo--Yuen2017 G
CLDN1     A31chr3:
190077626-190077626
TCintergenicDe novo--Wu2018 G
CLDN1     AU4347301chr3:
189913321-189913321
CTintergenicDe novo--Yuen2017 G
CLDN1     7-0032-003chr3:
189902449-189902449
CGintergenicDe novo--Yuen2017 G
CLDN1     AU3984302chr3:
190001016-190001016
TCintergenicDe novo--Yuen2017 G
CLDN1     AU4056302chr3:
190079578-190079578
GCintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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