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Results for "SUSD4"

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
SUSD4     AU3852301chr1:
223469684-223469684
TCintronicDe novo--Yuen2017 G
SUSD4     14062.p1chr1:
223438094-223438094
GAexonicDe novononsynonymous SNVNM_001037175
NM_017982
c.C602T
c.C602T
p.P201L
p.P201L
21.01.648E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
SUSD4     348-05-104001chr1:
223400943-223400944
GAGexonicDe novoframeshift deletionNM_017982c.1053delTp.F351fs--Satterstrom2020 E
SUSD4     1-0757-003chr1:
223521154-223521154
CAintronicDe novo--Yuen2017 G
SUSD4     1-0373-003chr1:
223531038-223531038
CTintronicDe novo--Yuen2017 G
SUSD4     1-0048-003chr1:
223545297-223545297
GCintergenicDe novo--Yuen2017 G
SUSD4     AU1448301chr1:
223443018-223443018
GTintronicDe novo--Yuen2017 G
SUSD4     AU002903chr1:
223438060-223438060
GAexonicDe novosynonymous SNVNM_001037175
NM_017982
c.C636T
c.C636T
p.P212P
p.P212P
-4.0E-4Yuen2017 G
SUSD4     1-0483-003chr1:
223451726-223451726
ACintronicDe novo--Yuen2017 G
SUSD4     AU1988301chr1:
223431498-223431498
CTintronicDe novo--Yuen2017 G
SUSD4     1-0841-003chr1:
223540341-223540341
GAintergenicDe novo--Yuen2017 G
SUSD4     11729.p1chr1:
223556652-223556652
TCintergenicDe novo--Wilfert2021 G
SUSD4     AU3605303chr1:
223465810-223465810
GAexonicDe novononsynonymous SNVNM_001037175
NM_017982
c.C332T
c.C332T
p.P111L
p.P111L
16.41-Yuen2017 G
SUSD4     11869.p1chr1:
223465897-223465897
CTexonicMosaicnonsynonymous SNVNM_001037175
NM_017982
c.G245A
c.G245A
p.R82Q
p.R82Q
20.2-Krupp2017 E
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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