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Results for "PEG10"

Variant Events: 15

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
PEG10     2-1153-003chr7:
94365128-94365128
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
PEG10     2-1738-003chr7:
94291005-94291005
CTintronicDe novo--Yuen2017 G
PEG10     13604.p1chr7:
94293229-94293229
GAexonicDe novononsynonymous SNVNM_001040152
NM_001172438
NM_001184962
c.G361A
c.G589A
c.G463A
p.V121M
p.V197M
p.V155M
15.64-Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
PEG10     SSC08332chr7:
94293229-94293229
GAexonicDe novononsynonymous SNVNM_001040152
NM_001172438
NM_001184962
c.G361A
c.G589A
c.G463A
p.V121M
p.V197M
p.V155M
15.64-Lim2017 E
PEG10     1-0412-003chr7:
94320484-94320484
GAintergenicDe novo--Yuen2017 G
PEG10     AU4092302chr7:
94456280-94456280
GTintergenicDe novo--Yuen2017 G
PEG10     AU3903301chr7:
94531834-94531834
AGintergenicDe novo--Yuen2017 G
PEG10     1-0203-003chr7:
94412256-94412256
GCintergenicDe novo--Yuen2017 G
PEG10     2-1359-004chr7:
94413087-94413087
GTintergenicDe novo--Yuen2017 G
PEG10     AU3724302chr7:
94480523-94480523
TCintergenicDe novo--Yuen2017 G
PEG10     1-0898-003chr7:
94478501-94478501
GAintergenicDe novo--Yuen2017 G
PEG10     1-0524-003chr7:
94433715-94433715
AGintergenicDe novo--Yuen2017 G
PEG10     AU3808305chr7:
94407491-94407491
TAintergenicDe novo--Yuen2017 G
PEG10     13298.p1chr7:
94494151-94494151
CGintergenicDe novo--Turner2016 G
PEG10     1-0125-003chr7:
94294004-94294005
TCTCCexonicDe novounknown--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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