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Results for "CLSTN1"

Variant Events: 8

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
CLSTN1     AU061104chr1:
9897459-9897459
CTintergenicDe novo--Yuen2017 G
CLSTN1     AU4029302chr1:
9841549-9841549
TCintronicDe novo--Yuen2017 G
CLSTN1     11185.p1chr1:
9795926-9795926
CAintronicDe novo--Krumm2015 E
Satterstrom2020 E
CLSTN1     2-1300-003chr1:
9865883-9865883
CTintronicDe novo--Yuen2016 G
Yuen2017 G
CLSTN1     1-0193-003chr1:
9830559-9830559
GAintronicDe novo--Yuen2017 G
CLSTN1     AU4176302chr1:
9845394-9845394
TAintronicDe novo--Yuen2017 G
CLSTN1     1-0169-004chr1:
9822448-9822454
GGCAGAAGintronicDe novo--Yuen2017 G
CLSTN1     1-0971-003chr1:
9903932-9903932
GTintergenicDe 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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