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Results for "PIGG"

Variant Events: 10

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
PIGG     1-0656-003chr4:
607949-607949
AGintergenicDe novo--Yuen2017 G
PIGG     1-0158-012chr4:
529195-529195
GCintronicDe novo--Yuen2017 G
PIGG     AU1894304chr4:
497172-497172
CGintronicDe novo--Yuen2017 G
PIGG     SSC04349chr4:
517523-517523
CTexonicDe novosynonymous SNVNM_001289052
NM_001127178
NM_001289051
NM_017733
c.C1491T
c.C1890T
c.C1623T
c.C1866T
p.V497V
p.V630V
p.V541V
p.V622V
-1.654E-5Lim2017 E
PIGG     2-0142-004chr4:
521377-521378
AGAintronicDe novo--Yuen2017 G
PIGG     13701.p1chr4:
499570-499570
CTexonicMosaicsynonymous SNVNM_001127178
NM_001289051
NM_001289053
NM_001289057
NM_017733
NM_001289055
c.C424T
c.C157T
c.C157T
c.C157T
c.C424T
c.C58T
p.L142L
p.L53L
p.L53L
p.L53L
p.L142L
p.L20L
--Dou2017 E
Krupp2017 E
PIGG     12473.p1chr4:
517523-517523
CTexonicDe novosynonymous SNVNM_001289052
NM_001127178
NM_001289051
NM_017733
c.C1491T
c.C1890T
c.C1623T
c.C1866T
p.V497V
p.V630V
p.V541V
p.V622V
-1.654E-5Krupp2017 E
Satterstrom2020 E
PIGG     1-0925-003chr4:
605366-605370
GCACAGCACACAintergenicDe novo--Yuen2017 G
PIGG     AU005214chr4:
593679-593679
AGintergenicDe novo--Yuen2017 G
PIGG     1-0219-003chr4:
533784-533786
ATCAdownstreamDe 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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