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Results for "PRDM2"

Variant Events: 55

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
PRDM2     2-0158-003chr1:
14392083-14392083
CTintergenicDe novo--Yuen2017 G
PRDM2     2-1509-003chr1:
14058512-14058518
ACCCCCCACCCCCintronicDe novo--Yuen2017 G
PRDM2     AU3861302chr1:
14501692-14501692
GCintergenicDe novo--Yuen2017 G
PRDM2     AU2100302chr1:
14683488-14683488
TCintergenicDe novo--Yuen2017 G
PRDM2     1-0394-003chr1:
14804813-14804833
AGAAGGAAGGAAGGAAGGAAGAGAAGGAAGGAAGGAAGintergenicDe novo--Yuen2017 G
PRDM2     1-0757-003chr1:
14902773-14902773
AGintergenicDe novo--Yuen2017 G
PRDM2     1-0394-003chr1:
14121141-14121141
CGintronicDe novo--Yuen2017 G
PRDM2     1-0652-004chr1:
14605404-14605404
AGintergenicDe novo--Yuen2017 G
PRDM2     AU2089302chr1:
14036555-14036555
AGintronicDe novo--Yuen2017 G
PRDM2     2-1416-004chr1:
14584245-14584245
CAintergenicDe novo--Yuen2017 G
PRDM2     2-1254-003chr1:
14513164-14513164
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
PRDM2     2-1170-003chr1:
14906912-14906912
GAintergenicDe novo--Yuen2017 G
PRDM2     2-1501-003chr1:
14616844-14616844
AGintergenicDe novo--Yuen2017 G
PRDM2     2-1702-004chr1:
14460065-14460065
AGintergenicDe novo--Yuen2017 G
PRDM2     2-1427-003chr1:
14583560-14583560
TCintergenicDe novo--Yuen2017 G
PRDM2     AU4243302chr1:
14908595-14908595
TGintergenicDe novo--Yuen2017 G
PRDM2     1-0609-003chr1:
14902018-14902018
GAintergenicDe novo--Yuen2017 G
PRDM2     2-0307-004chr1:
14860042-14860042
GAintergenicDe novo--Yuen2017 G
PRDM2     2-0319-004chr1:
14038050-14038050
AGintronicDe novo--Yuen2017 G
PRDM2     2-0063-003chr1:
14535863-14535863
CTintergenicDe novo--Yuen2017 G
PRDM2     2-1195-003chr1:
14626488-14626488
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
PRDM2     2-1168-003chr1:
14462178-14462178
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
PRDM2     1-0380-003chr1:
14087106-14087106
GAintronicDe novo--Yuen2017 G
PRDM2     2-1363-003chr1:
14810149-14810149
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
PRDM2     AU076705chr1:
14317373-14317373
GAintergenicDe novo--Yuen2017 G
PRDM2     1-0433-003chr1:
14362217-14362217
GAintergenicDe novo--Yuen2017 G
PRDM2     AU3951301chr1:
14040795-14040795
AGintronicDe novo--Yuen2017 G
PRDM2     1-0632-003chr1:
14208872-14208872
CTintergenicDe novo--Yuen2017 G
PRDM2     A15chr1:
14902018-14902018
GAintergenicDe novo--Wu2018 G
PRDM2     1-0079-008chr1:
14162235-14162235
AGintergenicDe novo--Yuen2017 G
PRDM2     1-0303-003chr1:
14437759-14437759
GAintergenicDe novo--Yuen2017 G
PRDM2     1-0345-003chr1:
14252915-14252915
AGintergenicDe novo--Yuen2017 G
PRDM2     1-0400-003chr1:
14906392-14906392
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
PRDM2     1-0218-004chr1:
14893397-14893397
TCintergenicDe novo--Yuen2017 G
PRDM2     7-0103-003chr1:
14730987-14730987
CTintergenicDe novo--Yuen2017 G
PRDM2     1-0006-004chr1:
14439030-14439030
CTintergenicDe novo--Yuen2017 G
PRDM2     AU009805chr1:
14896040-14896040
GCintergenicDe novo--Yuen2017 G
PRDM2     AU0786305chr1:
14308423-14308423
CGintergenicDe novo--Yuen2017 G
PRDM2     iHART2917chr1:
14068588-14068588
CAexonicMaternalstopgainNM_001135610
NM_012231
NM_015866
c.C320A
c.C320A
c.C320A
p.S107X
p.S107X
p.S107X
46.0-Ruzzo2019 G
PRDM2     13393.p1chr1:
14578442-14578442
CTintergenicDe novo--Turner2016 G
PRDM2     14370.p1chr1:
14437084-14437084
ACintergenicDe novo--Turner2016 G
PRDM2     2-1526-003chr1:
14773138-14773138
ACintergenicDe novo--Yuen2017 G
PRDM2     AU4462302chr1:
14214458-14214458
GAintergenicDe novo--Yuen2017 G
PRDM2     2-1176-003chr1:
14336138-14336138
GAintergenicDe novo--Yuen2017 G
PRDM2     AU003403chr1:
14180627-14180627
TCintergenicDe novo--Yuen2017 G
PRDM2     7-0249-003chr1:
14848419-14848419
AGintergenicDe novo--Yuen2017 G
PRDM2     2-0219-004chr1:
14074316-14074316
GCintronicDe novo--Yuen2017 G
PRDM2     1-0668-003chr1:
14610145-14610145
TCintergenicDe novo--Yuen2017 G
PRDM2     AU073006chr1:
14861179-14861179
CTintergenicDe novo--Yuen2017 G
PRDM2     1-0863-003chr1:
14325766-14325766
CTintergenicDe novo--Yuen2017 G
PRDM2     2-0242-005chr1:
14177037-14177037
CTintergenicDe novo--Yuen2017 G
PRDM2     1-0368-004chr1:
14548220-14548220
GAintergenicDe novo--Yuen2017 G
PRDM2     2-1337-003chr1:
14768126-14768126
CTintergenicDe novo--Yuen2017 G
PRDM2     1-0382-004chr1:
14647281-14647281
CTintergenicDe novo--Yuen2017 G
PRDM2     AU4150301chr1:
14196435-14196438
TTCTTTintergenicDe 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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