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Results for "ADAM33"

Variant Events: 7

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
ADAM33     1-0571-003chr20:
3657548-3657548
CTintronicDe novo--Yuen2017 G
ADAM33     12561.p1chr20:
3655475-3655475
GAexonicDe novostopgainNM_001282447
NM_025220
NM_153202
c.C355T
c.C355T
c.C355T
p.R119X
p.R119X
p.R119X
18.177.753E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Willsey2013 E
ADAM33     2-1194-003chr20:
3659687-3659687
GCintronicDe novo--Yuen2017 G
ADAM33     iHART3256chr20:
3650251-3650252
CACexonicPaternalframeshift deletionNM_153202
NM_001282447
NM_025220
c.2195delT
c.2273delT
c.2273delT
p.L732fs
p.L758fs
p.L758fs
--Ruzzo2019 G
ADAM33     DEASD_2169_001chr20:
3654216-3654216
CTintronicDe novo-9.0E-4Fu2022 E
ADAM33     iHART3255chr20:
3650251-3650252
CACexonicPaternalframeshift deletionNM_153202
NM_001282447
NM_025220
c.2195delT
c.2273delT
c.2273delT
p.L732fs
p.L758fs
p.L758fs
--Ruzzo2019 G
ADAM33     iHART3252chr20:
3650251-3650252
CACexonicPaternalframeshift deletionNM_153202
NM_001282447
NM_025220
c.2195delT
c.2273delT
c.2273delT
p.L732fs
p.L758fs
p.L758fs
--Ruzzo2019 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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