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Results for "SLC22A25"

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
SLC22A25     2-0142-003chr11:
62941488-62941488
AAGGTTTTAAACCATGTATGintronicDe novo--Yuen2017 G
SLC22A25     04C35712chr11:
62996969-62996969
AGexonicDe novosynonymous SNVNM_199352c.T156Cp.H52H--Satterstrom2020 E
SLC22A25     1-0433-004chr11:
62937090-62937090
AGintronicDe novo--Yuen2017 G
SLC22A25     AU2951302chr11:
62937104-62937104
CTintronicDe novo--Yuen2017 G
SLC22A25     2-0319-004chr11:
62996969-62996969
AGexonicDe novosynonymous SNVNM_199352c.T156Cp.H52H--Yuen2015 G
Yuen2017 G
SLC22A25     AU066404chr11:
62960051-62960051
GCintronicDe novo--Yuen2017 G
SLC22A25     1-0336-003chr11:
63036065-63036065
GAintergenicDe novo--Yuen2017 G
SLC22A25     AU2951303chr11:
62937104-62937104
CTintronicDe novo--Yuen2017 G
SLC22A25     5-0137-003chr11:
62990946-62990946
TCintronicDe novo--Yuen2017 G
SLC22A25     AU3052302chr11:
63008303-63008304
CTCTTintergenicDe novo--Yuen2017 G
SLC22A25     2-1736-003chr11:
63023700-63023700
TCintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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