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Results for "EXD2"

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
EXD2     12623.p1chr14:
69704192-69704192
TCintronicDe novo--Iossifov2014 E
Kosmicki2017 E
EXD2     MSSNG00049-003chr14:
69707785-69707785
TCexonicDe novononsynonymous SNVNM_018199
NM_001193361
NM_001193363
NM_001193360
NM_001193362
c.T1459C
c.T1834C
c.T1834C
c.T1834C
c.T1834C
p.F487L
p.F612L
p.F612L
p.F612L
p.F612L
16.37-Trost2022 G
Zhou2022 GE
EXD2     13864.p1chr14:
69704538-69704538
GCexonicDe novononsynonymous SNVNM_018199
NM_001193361
NM_001193363
NM_001193360
NM_001193362
c.G1164C
c.G1539C
c.G1539C
c.G1539C
c.G1539C
p.E388D
p.E513D
p.E513D
p.E513D
p.E513D
7.915-Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
EXD2     2-0319-004chr14:
69686106-69686106
TCintronicDe novo--Yuen2017 G
EXD2     mAGRE5555chr14:
69707618-69707620
ATGAexonicPaternalframeshift deletionNM_018199
NM_001193361
NM_001193363
NM_001193360
NM_001193362
c.1293_1294del
c.1668_1669del
c.1668_1669del
c.1668_1669del
c.1668_1669del
p.Y431fs
p.Y556fs
p.Y556fs
p.Y556fs
p.Y556fs
--Cirnigliaro2023 G
EXD2     MSSNG00339-004chr14:
69705870-69705870
TCintronicDe novo--Trost2022 G
EXD2     13093.p1chr14:
69701564-69701564
GCexonicMosaicnonsynonymous SNVNM_018199
NM_001193361
NM_001193363
NM_001193360
NM_001193362
c.G490C
c.G865C
c.G865C
c.G865C
c.G865C
p.D164H
p.D289H
p.D289H
p.D289H
p.D289H
25.9-Dou2017 E
Krupp2017 E
Lim2017 E
EXD2     3-0066-001chr14:
69660018-69660018
CTintronicDe novo--Trost2022 G
EXD2     7-0253-005 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
EXD2     14303.p1chr14:
69719806-69719806
CTintergenicDe novo--Wilfert2021 G
EXD2     1-0007-003chr14:
69667156-69667156
GCintronicDe novo--Yuen2017 G
EXD2     SP0079126chr14:
69703159-69703159
CTexonicDe novononsynonymous SNVNM_018199
NM_001193361
NM_001193363
NM_001193360
NM_001193362
c.C817T
c.C1192T
c.C1192T
c.C1192T
c.C1192T
p.R273W
p.R398W
p.R398W
p.R398W
p.R398W
21.8-Fu2022 E
Trost2022 G
Zhou2022 GE
EXD2     SP0049297chr14:
69704402-69704402
AGexonicDe novononsynonymous SNVNM_018199
NM_001193361
NM_001193363
NM_001193360
NM_001193362
c.A1028G
c.A1403G
c.A1403G
c.A1403G
c.A1403G
p.Y343C
p.Y468C
p.Y468C
p.Y468C
p.Y468C
16.868.31E-6Fu2022 E
Trost2022 G
Zhou2022 GE
EXD2     SP0086553chr14:
69701588-69701588
AGexonicDe novononsynonymous SNVNM_018199
NM_001193361
NM_001193363
NM_001193360
NM_001193362
c.A514G
c.A889G
c.A889G
c.A889G
c.A889G
p.M172V
p.M297V
p.M297V
p.M297V
p.M297V
4.8784.128E-5Fu2022 E
Trost2022 G
Zhou2022 GE
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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