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Results for "SUCLA2"

Variant Events: 12

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
SUCLA2     08C73740chr13:
48575333-48575333
GAexonicDe novostopgainNM_003850c.C73Tp.Q25X7.221-Neale2012 E
SUCLA2     2-1362-003chr13:
48544106-48544106
GAintronicDe novo--Trost2022 G
Yuen2017 G
SUCLA2     AU3605304chr13:
48596663-48596663
CTintergenicDe novo--Yuen2017 G
SUCLA2     iHART2154chr13:
48528418-48528418
CTsplicingMaternalsplicing17.94-Ruzzo2019 G
SUCLA2     3-0056-000chr13:
48563427-48563427
GAintronicDe novo--Trost2022 G
SUCLA2     MT_73.3chr13:
48571652-48571652
AGintronicDe novo--Trost2022 G
SUCLA2     1008chr13:
48522217-48522218
TATintronicDe novo--Trost2022 G
SUCLA2     7-0227-003chr13:
48551948-48551951
CAATCintronicDe novo--Trost2022 G
SUCLA2     SP0075360chr13:
48575333-48575333
GCexonicDe novononsynonymous SNVNM_003850c.C73Gp.Q25E6.588-Fu2022 E
Trost2022 G
Zhou2022 GE
SUCLA2     iHART2155chr13:
48528418-48528418
CTsplicingMaternalsplicing17.94-Ruzzo2019 G
SUCLA2     mAGRE2155chr13:
48528418-48528418
CTsplicingMaternalsplicing17.94-Cirnigliaro2023 G
SUCLA2     mAGRE2154chr13:
48528418-48528418
CTsplicingMaternalsplicing17.94-Cirnigliaro2023 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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