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Results for "SPIDR"

Variant Events: 58

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
SPIDR     13766.p1chr8:
48206532-48206532
CTexonicDe novosynonymous SNVNM_001282916
NM_001080394
NM_001282919
c.C228T
c.C438T
c.C258T
p.D76D
p.D146D
p.D86D
--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
SPIDR     3-0017-000chr8:
48413608-48413608
CAintronicDe novo--Trost2022 G
SPIDR     AU063005chr8:
48441328-48441328
AGintronicDe novo--Trost2022 G
Yuen2017 G
SPIDR     REACH000540chr8:
48468165-48468165
AGintronicDe novo--Trost2022 G
SPIDR     AU059003chr8:
48385961-48385961
ATintronicDe novo--Trost2022 G
SPIDR     MT_59.3chr8:
48397517-48397517
CTintronicDe novo--Trost2022 G
SPIDR     5-2005-003chr8:
48337078-48337078
CTintronicDe novo--Trost2022 G
SPIDR     5-0131-003chr8:
48365518-48365523
GAGGGCTCGCAGintronicDe novo--Trost2022 G
SPIDR     3-0711-000Achr8:
48327134-48327134
AGintronicDe novo--Trost2022 G
SPIDR     1-0618-003chr8:
48336985-48336985
ATintronicDe novo--Trost2022 G
SPIDR     7-0123-003chr8:
48447634-48447634
CTintronicDe novo--Trost2022 G
Yuen2017 G
SPIDR     1-0670-003chr8:
48596051-48596051
AGintronicDe novo--Trost2022 G
SPIDR     1-0182-003chr8:
48599223-48599223
AATintronicDe novo--Trost2022 G
SPIDR     AU055603chr8:
48578574-48578574
CTintronicDe novo--Trost2022 G
SPIDR     2-1422-003chr8:
48632066-48632066
GAintronicDe novo--Trost2022 G
Yuen2017 G
SPIDR     5-0045-003chr8:
48480093-48480093
ATintronicDe novo--Trost2022 G
Yuen2017 G
SPIDR     1-1119-003chr8:
48579010-48579010
GAintronicDe novo--Trost2022 G
SPIDR     7-0385-003chr8:
48558059-48558059
GAintronicDe novo--Trost2022 G
SPIDR     4-0075-003chr8:
48566504-48566504
TTTCCintronicDe novo--Trost2022 G
SPIDR     7-0309-004chr8:
48485895-48485895
TCintronicDe novo--Trost2022 G
SPIDR     MSSNG00369-005chr8:
48487715-48487715
CTintronicDe novo--Trost2022 G
SPIDR     2-1521-003chr8:
48608733-48608733
CTintronicDe novo--Trost2022 G
Yuen2017 G
SPIDR     5-5202-003chr8:
48614704-48614704
TGintronicDe novo--Trost2022 G
SPIDR     2-0264-004chr8:
48548027-48548027
AGintronicDe novo--Trost2022 G
Yuen2017 G
SPIDR     2-1552-003chr8:
48646662-48646664
CTTCintronicDe novo--Trost2022 G
SPIDR     AU2458303chr8:
48506288-48506288
TCintronicDe novo--Trost2022 G
Yuen2017 G
SPIDR     AU3702306chr8:
48615188-48615188
CGintronicDe novo--Trost2022 G
Yuen2017 G
SPIDR     AU4327303chr8:
48465477-48465477
TCintronicDe novo--Trost2022 G
Yuen2017 G
SPIDR     AU4246304chr8:
48404807-48404807
ATintronicDe novo--Trost2022 G
Yuen2017 G
SPIDR     2-1296-003chr8:
48602860-48602860
CTintronicDe novo--Trost2022 G
Yuen2017 G
SPIDR     1-0563-004chr8:
48236667-48236667
AAAGintronicDe novo--Trost2022 G
Yuen2017 G
SPIDR     Wang2023:102chr8:
48511646-48511646
CGexonicDe novononsynonymous SNVNM_001282916
NM_001080394
NM_001282919
c.C1222G
c.C1432G
c.C1252G
p.P408A
p.P478A
p.P418A
3.936-Wang2023 E
SPIDR     2-1268-003chr8:
48281350-48281350
GAintronicDe novo--Yuen2017 G
SPIDR     CC935_201chr8:
48641581-48641581
CTexonicDe novononsynonymous SNVNM_001282916
NM_001080394
NM_001282919
c.C2312T
c.C2522T
c.C2342T
p.S771L
p.S841L
p.S781L
10.58-Fu2022 E
SPIDR     GEA440chr8:
48614537-48614537
GAexonicDe novononsynonymous SNVNM_001282916
NM_001080394
NM_001282919
c.G1727A
c.G1937A
c.G1757A
p.R576H
p.R646H
p.R586H
15.151.674E-5Fu2022 E
SPIDR     SP0100876chr8:
48647822-48647822
AGintronicDe novo--Fu2022 E
Trost2022 G
SPIDR     SP0053238chr8:
48511838-48511838
ACintronicDe novo--Fu2022 E
SPIDR     13766_p1chr8:
48206532-48206532
CTexonicDe novosynonymous SNVNM_001282916
NM_001080394
NM_001282919
c.C228T
c.C438T
c.C258T
p.D76D
p.D146D
p.D86D
--Fu2022 E
SPIDR     CC935.201chr8:
48641581-48641581
CTexonicDe novononsynonymous SNVNM_001282916
NM_001080394
NM_001282919
c.C2312T
c.C2522T
c.C2342T
p.S771L
p.S841L
p.S781L
10.58-Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SPIDR     1-0563-003chr8:
48236667-48236667
AAAGintronicDe novo--Trost2022 G
Yuen2017 G
SPIDR     AU1640302chr8:
48359794-48359794
GCintronicDe novo--Trost2022 G
Yuen2017 G
SPIDR     7-0188-003chr8:
48616728-48616728
TCintronicDe novo--Trost2022 G
Yuen2017 G
SPIDR     AU4029301chr8:
48220635-48220635
GAintronicDe novo--Yuen2017 G
SPIDR     AU3692301chr8:
48419827-48419827
AGintronicDe novo--Trost2022 G
Yuen2017 G
SPIDR     SJD_45.3chr8:
48201667-48201667
TCintronicDe novo--Trost2022 G
SPIDR     AU3881302chr8:
48204975-48204975
TCintronicDe novo--Trost2022 G
SPIDR     3-0829-000chr8:
48188307-48188307
TCintronicDe novo--Trost2022 G
SPIDR     1-0375-003chr8:
48194621-48194621
GTintronicDe novo--Trost2022 G
SPIDR     AU4223302chr8:
48254048-48254048
AGintronicDe novo--Trost2022 G
Yuen2017 G
SPIDR     2-1116-003chr8:
48516915-48516915
AGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SPIDR     1-0845-003chr8:
48310279-48310279
GAintronicDe novo--Trost2022 G
SPIDR     1-1026-003chr8:
48319117-48319117
GAintronicDe novo--Trost2022 G
SPIDR     1-0603-003chr8:
48306474-48306474
ACintronicDe novo--Trost2022 G
SPIDR     7-0354-005chr8:
48308561-48308561
CTintronicDe novo--Trost2022 G
SPIDR     7-0459-003chr8:
48286771-48286771
ATintronicDe novo--Trost2022 G
SPIDR     5-0043-003chr8:
48290888-48290888
AGintronicDe novo--Trost2022 G
SPIDR     AU024105chr8:
48256531-48256531
CCTintronicDe novo--Trost2022 G
SPIDR     AU4359301chr8:
48276422-48276422
TTCintronicDe novo--Trost2022 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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