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Results for "STIM1"

Variant Events: 11

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
STIM1     SJD_49chr11:
4091409-4091409
AGexonicPaternalnonsynonymous SNVNM_001277961
NM_001277962
NM_003156
c.A767G
c.A767G
c.A767G
p.Q256R
p.Q256R
p.Q256R
26.31.648E-5Toma2013 E
STIM1     SP0109099chr11:
3988920-3988920
CTintronicDe novo--Fu2022 E
STIM1     AU1860302chr11:
4112146-4112155
TTCCCTCCCTTTCCCTintronicDe novo--Yuen2017 G
STIM1     SP0074522chr11:
4112642-4112642
CTexonicDe novononsynonymous SNVNM_001277961
NM_003156
c.C1990T
c.C1672T
p.R664W
p.R558W
18.04.126E-5Fu2022 E
STIM1     AU071204chr11:
4018279-4018279
ATintronicDe novo--Yuen2017 G
STIM1     2-1093-009chr11:
4089775-4089775
CGintronicDe novo--Yuen2017 G
STIM1     AU3586303chr11:
4033887-4033887
AGintronicDe novo--Yuen2017 G
STIM1     1-0246-005chr11:
3909762-3909762
TGintronicDe novo--Yuen2017 G
STIM1     5-0133-003chr11:
3977535-3977535
GAintronicDe novo--Yuen2017 G
STIM1     AU3638302chr11:
3891833-3891833
CTintronicDe novo--Yuen2017 G
STIM1     2-0299-005chr11:
3900127-3900127
GCintronicDe 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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