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Results for "PISD"

Variant Events: 16

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
PISD     PN400115chr22:
32072800-32072800
CTintergenicUnknown40.00.0145Leblond2019 E
PISD     7-0055-003chr22:
32070259-32070259
CTintergenicDe novo--Yuen2017 G
PISD     AU4186302chr22:
32026728-32026728
GAintronicDe novo--Yuen2017 G
PISD     PN400219chr22:
32072800-32072800
CTintergenicUnknown40.00.0145Leblond2019 E
PISD     PN400121chr22:
32072800-32072800
CTintergenicUnknown40.00.0145Leblond2019 E
PISD     PN400332chr22:
32072800-32072800
CTintergenicUnknown40.00.0145Leblond2019 E
PISD     PN400116chr22:
32072800-32072800
CTintergenicUnknown40.00.0145Leblond2019 E
PISD     14370.p1chr22:
32036820-32036820
GAintergenicDe novo--Turner2016 G
PISD     A18 Complex Event; expand row to view variants  De novo--Wu2018 G
Wu2018 G
PISD     iHART1560chr22:
32058143-32058143
GGAintergenicMaternal-1.0E-4Ruzzo2019 G
PISD     09C90383chr22:
32015553-32015553
CCTGTTUTR3De novo--Satterstrom2020 E
PISD     iHART1562chr22:
32058143-32058143
GGAintergenicMaternal-1.0E-4Ruzzo2019 G
PISD     PN400443chr22:
32072800-32072800
CTintergenicUnknown40.00.0145Leblond2019 E
PISD     AU1933302chr22:
32026728-32026735
GCCTCCCTGCCTintronicDe novo--Yuen2017 G
PISD     AU3760302chr22:
32075683-32075683
CAintergenicDe novo--Yuen2017 G
PISD     1-0971-003chr22:
32071731-32071731
AATintergenicDe 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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