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Results for "DPYSL2"

Variant Events: 16

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
DPYSL2     1-0531-003chr8:
26396760-26396760
AGintronicDe novo--Yuen2017 G
DPYSL2     2-0305-003chr8:
26420180-26420180
ACintronicDe novo--Yuen2017 G
DPYSL2     2-1280-003chr8:
26580674-26580674
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
DPYSL2     2-0197-004chr8:
26480890-26480890
AGintronicDe novo--Yuen2017 G
DPYSL2     1-0119-004chr8:
26557178-26557178
CTintergenicDe novo--Yuen2017 G
DPYSL2     MAC1188chr8:
26492318-26492318
GAexonicDe novononsynonymous SNVNM_001197293
NM_001244604
NM_001386
c.G1028A
c.G605A
c.G713A
p.R343H
p.R202H
p.R238H
30.0-Satterstrom2020 E
DPYSL2     14370.p1chr8:
26555956-26555956
GTintergenicDe novo--Turner2016 G
DPYSL2     2-0022-004chr8:
26390538-26390538
CTintronicDe novo--Yuen2017 G
DPYSL2     2-1620-004chr8:
26489674-26489674
ACintronicDe novo--Yuen2017 G
DPYSL2     1-0142-005chr8:
26455882-26455882
TGintronicDe novo--Yuen2017 G
DPYSL2     2-0309-004chr8:
26445965-26445965
TCintronicDe novo--Yuen2017 G
DPYSL2     11566.p1chr8:
26510772-26510772
CTexonicDe novononsynonymous SNVNM_001197293
NM_001244604
NM_001386
c.C1801T
c.C1378T
c.C1486T
p.R601C
p.R460C
p.R496C
23.38.261E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
DPYSL2     5-0041-003chr8:
26586273-26586273
GCintergenicDe novo--Yuen2017 G
DPYSL2     AU4056302chr8:
26455866-26455866
GTintronicDe novo--Yuen2017 G
DPYSL2     NDAR_INVCC187LU8_wes1chr8:
26501494-26501494
CAexonicDe novononsynonymous SNVNM_001197293
NM_001244604
NM_001386
c.C1312A
c.C889A
c.C997A
p.H438N
p.H297N
p.H333N
20.4-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
DPYSL2     1-0531-003chr8:
26397362-26397362
CAintronicDe novo--Yuen2016 G
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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