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Results for "C9orf72"

Variant Events: 36

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
C9orf72     1-0531-003chr9:
27895249-27895249
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
C9orf72     AU3808304chr9:
27569518-27569518
ACintronicDe novo--Yuen2017 G
C9orf72     2-0149-005chr9:
27741434-27741434
GAintergenicDe novo--Yuen2017 G
C9orf72     AU056604chr9:
27761741-27761741
CTintergenicDe novo--Yuen2017 G
C9orf72     AU2485305chr9:
27830190-27830190
TCintergenicDe novo--Yuen2017 G
C9orf72     2-1283-003chr9:
27593136-27593136
AGintergenicDe novo--Yuen2017 G
C9orf72     2-1370-003chr9:
27684879-27684879
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
C9orf72     2-1164-003chr9:
27654940-27654940
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
C9orf72     2-1176-003chr9:
27705274-27705274
CTintergenicDe novo--Yuen2017 G
C9orf72     1-0591-003chr9:
27665166-27665166
GCintergenicDe novo--Yuen2017 G
C9orf72     1-0591-003chr9:
27634580-27634580
GCintergenicDe novo--Yuen2017 G
C9orf72     AU1668302chr9:
27925382-27925382
CAintergenicDe novo--Yuen2017 G
C9orf72     1-0651-003chr9:
27767489-27767489
CTintergenicDe novo--Yuen2017 G
C9orf72     AU4015303chr9:
27692777-27692783
CAAAGAACAAintergenicDe novo--Yuen2017 G
C9orf72     1-0277-003chr9:
27642905-27642905
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
C9orf72     1-0065-005chr9:
27658762-27658762
CTintergenicDe novo--Yuen2017 G
C9orf72     2-1283-004chr9:
27593136-27593136
AGintergenicDe novo--Yuen2017 G
C9orf72     13515.p1chr9:
27896735-27896735
CTintergenicDe novo--Turner2016 G
C9orf72     AU3076302chr9:
27814674-27814674
AGintergenicDe novo--Yuen2017 G
C9orf72     2-1454-003chr9:
27831846-27831846
CTintergenicDe novo--Yuen2017 G
C9orf72     5-0033-004chr9:
27924497-27924497
TCintergenicDe novo--Yuen2017 G
C9orf72     13942.p1chr9:
27596659-27596659
CGintergenicDe novo--Turner2016 G
C9orf72     AU3125301chr9:
27746127-27746127
GAintergenicDe novo--Yuen2017 G
C9orf72     2-1291-003chr9:
27942783-27942783
CTintergenicDe novo--Yuen2016 G
C9orf72     AU3692301chr9:
27599614-27599614
GAintergenicDe novo--Yuen2017 G
C9orf72     1-0161-004chr9:
27571820-27571820
CAintronicDe novo--Yuen2017 G
C9orf72     641-05-104712chr9:
27560181-27560181
GTintronicDe novo--Satterstrom2020 E
C9orf72     1-0669-003chr9:
27898345-27898345
CAintergenicDe novo--Yuen2017 G
C9orf72     11868.p1chr9:
27699626-27699626
CAintergenicDe novo--Werling2018 G
C9orf72     2-1408-003chr9:
27886508-27886508
CTintergenicDe novo--Yuen2017 G
C9orf72     1-0296-003chr9:
27833968-27833968
ACintergenicDe novo--Yuen2017 G
C9orf72     5-0050-004chr9:
27867141-27867141
GAintergenicDe novo--Yuen2017 G
C9orf72     AU002406chr9:
27815592-27815592
GAintergenicDe novo--Yuen2017 G
C9orf72     7-0130-003chr9:
27599968-27599968
AGintergenicDe novo--Yuen2017 G
C9orf72     1-0551-003chr9:
27803973-27803973
GTintergenicDe novo--Yuen2017 G
C9orf72     A7chr9:
27811208-27811208
GCintergenicDe novo--Wu2018 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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