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Results for "SPIDR"

Variant Events: 22

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
Wilfert2021 G
SPIDR     7-0188-003chr8:
48616728-48616728
TCintronicDe novo--Yuen2017 G
SPIDR     AU063005chr8:
48441328-48441328
AGintronicDe novo--Yuen2017 G
SPIDR     AU2458303chr8:
48506288-48506288
TCintronicDe novo--Yuen2017 G
SPIDR     AU3702306chr8:
48615188-48615188
CGintronicDe novo--Yuen2017 G
SPIDR     7-0123-003chr8:
48447634-48447634
CTintronicDe novo--Yuen2017 G
SPIDR     AU4029301chr8:
48220635-48220635
GAintronicDe novo--Yuen2017 G
SPIDR     AU4327303chr8:
48465477-48465477
TCintronicDe novo--Yuen2017 G
SPIDR     AU4246304chr8:
48404807-48404807
ATintronicDe novo--Yuen2017 G
SPIDR     2-1422-003chr8:
48632066-48632066
GAintronicDe novo--Yuen2017 G
SPIDR     5-0045-003chr8:
48480093-48480093
ATintronicDe novo--Yuen2017 G
SPIDR     2-1296-003chr8:
48602860-48602860
CTintronicDe novo--Yuen2017 G
SPIDR     AU3692301chr8:
48419827-48419827
AGintronicDe 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-Satterstrom2020 E
SPIDR     2-1521-003chr8:
48608733-48608733
CTintronicDe novo--Yuen2017 G
SPIDR     1-0563-003chr8:
48236667-48236667
AAAGintronicDe novo--Yuen2017 G
SPIDR     AU4223302chr8:
48254048-48254048
AGintronicDe novo--Yuen2017 G
SPIDR     2-1116-003chr8:
48516915-48516915
AGintronicDe novo--Yuen2016 G
Yuen2017 G
SPIDR     1-0563-004chr8:
48236667-48236667
AAAGintronicDe novo--Yuen2017 G
SPIDR     AU1640302chr8:
48359794-48359794
GCintronicDe novo--Yuen2017 G
SPIDR     2-0264-004chr8:
48548027-48548027
AGintronicDe novo--Yuen2017 G
SPIDR     2-1268-003chr8:
48281350-48281350
GAintronicDe novo--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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