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Results for "CACHD1"

Variant Events: 13

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
CACHD1     13515.p1chr1:
64936174-64936174
CGupstreamDe novo--Turner2016 G
CACHD1     2-0018-004chr1:
65128672-65128672
GAintronicDe novo--Yuen2017 G
CACHD1     14370.p1chr1:
65138734-65138734
ATintronicDe novo--Turner2016 G
CACHD1     10C105879chr1:
65139072-65139072
TGexonicDe novononsynonymous SNVNM_001293274
NM_020925
c.T1764G
c.T2499G
p.F588L
p.F833L
13.51-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
CACHD1     1-0373-003chr1:
64939942-64939942
GAintronicDe novo--Yuen2017 G
CACHD1     2-1066-003chr1:
65068874-65068874
GAintronicDe novo--Yuen2017 G
CACHD1     2-1485-003chr1:
65183531-65183531
GAintergenicDe novo--Yuen2017 G
CACHD1     1-0139-005chr1:
64948244-64948244
ACintronicDe novo--Yuen2017 G
CACHD1     2-1485-004chr1:
65183531-65183531
GAintergenicDe novo--Yuen2017 G
CACHD1     2-0286-003chr1:
64970094-64970094
CTintronicDe novo--Yuen2017 G
CACHD1     1-0973-003chr1:
64936333-64936333
CGupstreamDe novo--Yuen2017 G
CACHD1     AU076704chr1:
65156065-65156065
GAintronicDe novo--Yuen2017 G
CACHD1     2-1182-003chr1:
65154142-65154142
CTintronicDe novo--Yuen2016 G
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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