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Results for "ADAM22"

Variant Events: 14

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
ADAM22     AU2075302chr7:
87636804-87636804
CTintronicDe novo--Yuen2017 G
ADAM22     13317.p1chr7:
87607732-87607732
GAintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
ADAM22     2-1276-003chr7:
87786863-87786863
CTintronicDe novo--Yuen2016 G
Yuen2017 G
ADAM22     AU3874303chr7:
87697239-87697239
ACintronicDe novo--Yuen2017 G
ADAM22     AU3761301chr7:
87662282-87662282
TCintronicDe novo--Yuen2017 G
ADAM22     AU011604chr7:
87734864-87734864
CAintronicDe novo--Yuen2017 G
ADAM22     PN400347chr7:
87759715-87759715
CTexonicUnknownnonsynonymous SNVNM_004194
NM_016351
NM_021721
NM_021722
NM_021723
c.C766T
c.C766T
c.C766T
c.C766T
c.C766T
p.R256W
p.R256W
p.R256W
p.R256W
p.R256W
33.03.0E-4Leblond2019 E
ADAM22     AU011604chr7:
87735754-87735754
GCintronicDe novo--Yuen2017 G
ADAM22     1-0191-003chr7:
87691030-87691030
GTintronicDe novo--Yuen2017 G
ADAM22     AU3632301chr7:
87766254-87766254
GAintronicDe novo--Yuen2017 G
ADAM22     10C102280chr7:
87760687-87760687
GAexonicDe novononsynonymous SNVNM_004194
NM_016351
NM_021721
NM_021722
NM_021723
c.G929A
c.G929A
c.G929A
c.G929A
c.G929A
p.R310H
p.R310H
p.R310H
p.R310H
p.R310H
16.188.298E-6Neale2012 E
ADAM22     AU3703302chr7:
87576552-87576552
AGintronicDe novo--Yuen2017 G
ADAM22     1360JS0028chr7:
87760687-87760687
GAexonicDe novononsynonymous SNVNM_004194
NM_016351
NM_021721
NM_021722
NM_021723
c.G929A
c.G929A
c.G929A
c.G929A
c.G929A
p.R310H
p.R310H
p.R310H
p.R310H
p.R310H
16.188.298E-6DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
ADAM22     7-0175-003chr7:
87626554-87626554
TCintronicDe 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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