or
or
Exact

Results for "PRDM15"

Variant Events: 27

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
PRDM15     1-0338-005chr21:
43249269-43249269
ACintronicDe novo--Yuen2017 G
PRDM15     1-0744-003chr21:
43228305-43228305
GAintronicDe novo--Yuen2017 G
PRDM15     AU3809302chr21:
43282375-43282375
TAintronicDe novo--Yuen2017 G
PRDM15     A30chr21:
43236102-43236102
GAexonicDe novononsynonymous SNVNM_001040424
NM_001282934
NM_022115
c.C2462T
c.C2522T
c.C3449T
p.A821V
p.A841V
p.A1150V
27.3-Wu2018 G
PRDM15     2-1134-003chr21:
43281468-43281468
ACintronicDe novo--Yuen2017 G
PRDM15     2-0202-003chr21:
43249295-43249295
CGintronicDe novo--Yuen2017 G
PRDM15     2-0088-003chr21:
43249291-43249291
CCACACAAATintronicDe novo--Yuen2017 G
PRDM15     2-1314-003chr21:
43239362-43239362
TCintronicDe novo--Yuen2016 G
PRDM15     1-0417-003chr21:
43273789-43273789
ATintronicDe novo--Yuen2016 G
Yuen2017 G
PRDM15     1-0382-004chr21:
43247744-43247744
GTintronicDe novo--Yuen2017 G
PRDM15     1-0112-003chr21:
43249269-43249269
ACintronicDe novo--Yuen2017 G
PRDM15     1-0546-003chr21:
43232775-43232775
TCintronicDe novo--Yuen2017 G
PRDM15     1-0206-004chr21:
43249285-43249285
AACintronicDe novo--Yuen2017 G
PRDM15     2-1366-004chr21:
43249268-43249268
AACintronicDe novo--Yuen2017 G
PRDM15     14348.p1chr21:
43221713-43221713
TCexonicDe novononsynonymous SNVNM_001040424
NM_001282934
NM_022115
c.A3224G
c.A3284G
c.A4211G
p.N1075S
p.N1095S
p.N1404S
10.7-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
PRDM15     1-0169-003chr21:
43249292-43249292
AAAATGintronicDe novo--Yuen2017 G
PRDM15     13885.p1chr21:
43236202-43236202
CTintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
PRDM15     1-0559-003chr21:
43249269-43249269
ACintronicDe novo--Yuen2017 G
PRDM15     Li2017:23082chr21:
43254644-43254644
GGCexonicUnknownframeshift insertionNM_001282934c.1506dupGp.P503fs--Li2017 T
PRDM15     SSC11437chr21:
43221713-43221713
TCexonicDe novononsynonymous SNVNM_001040424
NM_001282934
NM_022115
c.A3224G
c.A3284G
c.A4211G
p.N1075S
p.N1095S
p.N1404S
10.7-Lim2017 E
PRDM15     2-0202-004chr21:
43249317-43249317
AACACTintronicDe novo--Yuen2017 G
PRDM15     14067.p1chr21:
43246423-43246423
AGintronicDe novo--Krumm2015 E
Satterstrom2020 E
PRDM15     1-0150-003chr21:
43249268-43249268
AACintronicDe novo--Yuen2017 G
PRDM15     Li2017:27806chr21:
43287454-43287454
GAexonicUnknownstopgainNM_022115c.C574Tp.Q192X15.0-Li2017 T
PRDM15     2-1094-005chr21:
43249295-43249295
CGintronicDe novo--Yuen2017 G
PRDM15     1048_16mrchr21:
43258149-43258149
CTexonicDe novononsynonymous SNVNM_001040424
NM_001282934
NM_022115
c.G1006A
c.G1006A
c.G1993A
p.E336K
p.E336K
p.E665K
27.98.237E-6Satterstrom2020 E
PRDM15     5-0088-003chr21:
43292378-43292378
GAintronicDe novo--Yuen2017 G
Source Variant Information

, -

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
More