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Results for "PYGL"

Variant Events: 13

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
PYGL     1-0485-003chr14:
51436479-51436479
CGintergenicDe novo--Yuen2017 G
PYGL     14243.p1chr14:
51378771-51378771
ACintronicDe novo-8.237E-6Krumm2015 E
Satterstrom2020 E
PYGL     2-0198-003chr14:
51437396-51437396
AGintergenicDe novo--Yuen2017 G
PYGL     SP0034226chr14:
51390810-51390810
TCexonicDe novosynonymous SNVNM_001163940
NM_002863
c.A435G
c.A537G
p.E145E
p.E179E
--Fu2022 E
PYGL     SP0035464chr14:
51383408-51383408
ACexonicDe novosynonymous SNVNM_001163940
NM_002863
c.T942G
c.T1044G
p.P314P
p.P348P
--Fu2022 E
PYGL     SP0009381chr14:
51382070-51382070
TGexonicDe novononsynonymous SNVNM_001163940
NM_002863
c.A1285C
c.A1387C
p.I429L
p.I463L
9.52-Fu2022 E
PYGL     iHART2303chr14:
51381418-51381418
CAsplicingMaternalsplicing24.68.251E-6Ruzzo2019 G
PYGL     iHART2305chr14:
51381418-51381418
CAsplicingMaternalsplicing24.68.251E-6Ruzzo2019 G
PYGL     1-0522-003chr14:
51439380-51439380
ACintergenicDe novo--Yuen2016 G
Yuen2017 G
PYGL     2-1335-003chr14:
51391343-51391343
GCintronicDe novo--Yuen2017 G
PYGL     5-0106-003chr14:
51397751-51397751
TGintronicDe novo--Yuen2017 G
PYGL     AU168Achr14:
51410920-51410920
ACexonicDe novononsynonymous SNVNM_001163940
NM_002863
c.T202G
c.T202G
p.W68G
p.W68G
27.2-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
PYGL     1-0674-004chr14:
51377773-51377773
AGintronicDe 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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