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Results for "CHCHD3"

Variant Events: 23

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
CHCHD3     AU050603chr7:
132485383-132485383
TCintronicDe novo--Yuen2017 G
CHCHD3     AU4145301chr7:
132724986-132724986
TCintronicDe novo--Yuen2017 G
CHCHD3     1-0294-003chr7:
132720542-132720542
AGintronicDe novo--Yuen2017 G
CHCHD3     1-0404-003chr7:
132622282-132622282
TCintronicDe novo--Yuen2017 G
CHCHD3     2-0070-003chr7:
132726793-132726793
GCintronicDe novo--Yuen2017 G
CHCHD3     1-0294-003chr7:
132720531-132720531
AGintronicDe novo--Yuen2017 G
CHCHD3     1-0294-003chr7:
132720136-132720136
CTintronicDe novo--Yuen2017 G
CHCHD3     1-0445-003chr7:
132925488-132925488
GAintergenicDe novo--Yuen2017 G
CHCHD3     7-0253-003 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
CHCHD3     7-0002-003chr7:
132607089-132607089
CTintronicDe novo--Yuen2017 G
CHCHD3     AU2248301chr7:
132517126-132517126
CTintronicDe novo--Yuen2017 G
CHCHD3     155-10-112875chr7:
132659870-132659870
CTintronicDe novo--Satterstrom2020 E
CHCHD3     14496.p1chr7:
132475414-132475414
CAintronicDe novo--Turner2016 G
CHCHD3     AU1987301chr7:
132834605-132834605
CTintergenicDe novo--Yuen2017 G
CHCHD3     2-1325-003chr7:
132720531-132720531
AGintronicDe novo--Yuen2017 G
CHCHD3     2-1325-003chr7:
132720136-132720136
CTintronicDe novo--Yuen2017 G
CHCHD3     AU3811305chr7:
132626713-132626722
GAAGTAAGTAGAAGTAintronicDe novo--Yuen2017 G
CHCHD3     1-0203-003chr7:
132539197-132539197
ATintronicDe novo--Yuen2017 G
CHCHD3     AU2433302chr7:
132761224-132761224
CTintronicDe novo--Yuen2017 G
CHCHD3     A11chr7:
132639976-132639976
TTGintronicDe novo--Wu2018 G
CHCHD3     7-0095-004chr7:
132505244-132505244
CAintronicDe novo--Yuen2017 G
CHCHD3     AU015903chr7:
132871868-132871868
CTintergenicDe novo--Yuen2017 G
CHCHD3     AU076808chr7:
132540085-132540085
CTintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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