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Results for "PRKD2"

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
PRKD2     2-1152-003chr19:
47193543-47193543
CTintronicDe novo--Yuen2016 G
Yuen2017 G
PRKD2     200675464@1082035034chr19:
47181869-47181869
GAexonicDe novononsynonymous SNVNM_001079882
NM_016457
NM_001079880
NM_001079881
c.C1651T
c.C2122T
c.C2122T
c.C2122T
p.R551C
p.R708C
p.R708C
p.R708C
24.8-Satterstrom2020 E
PRKD2     Chen2017:49chr19:
47181869-47181869
GAexonicDe novononsynonymous SNVNM_001079882
NM_016457
NM_001079880
NM_001079881
c.C1651T
c.C2122T
c.C2122T
c.C2122T
p.R551C
p.R708C
p.R708C
p.R708C
24.8-Chen2017 E
PRKD2     PN400489chr19:
47207570-47207570
GAexonicUnknownnonsynonymous SNVNM_001079882
NM_016457
NM_001079880
NM_001079881
c.C274T
c.C745T
c.C745T
c.C745T
p.R92C
p.R249C
p.R249C
p.R249C
24.78.237E-6Leblond2019 E
PRKD2     PN400546chr19:
47207570-47207570
GAexonicUnknownnonsynonymous SNVNM_001079882
NM_016457
NM_001079880
NM_001079881
c.C274T
c.C745T
c.C745T
c.C745T
p.R92C
p.R249C
p.R249C
p.R249C
24.78.237E-6Leblond2019 E
PRKD2     UK10K_SKUSE5080266chr19:
47207621-47207621
GAexonicDe novononsynonymous SNVNM_001079882
NM_016457
NM_001079880
NM_001079881
c.C223T
c.C694T
c.C694T
c.C694T
p.R75C
p.R232C
p.R232C
p.R232C
20.5-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
PRKD2     PN400534chr19:
47207570-47207570
GAexonicUnknownnonsynonymous SNVNM_001079882
NM_016457
NM_001079880
NM_001079881
c.C274T
c.C745T
c.C745T
c.C745T
p.R92C
p.R249C
p.R249C
p.R249C
24.78.237E-6Leblond2019 E
PRKD2     PN400551chr19:
47207570-47207570
GAexonicUnknownnonsynonymous SNVNM_001079882
NM_016457
NM_001079880
NM_001079881
c.C274T
c.C745T
c.C745T
c.C745T
p.R92C
p.R249C
p.R249C
p.R249C
24.78.237E-6Leblond2019 E
PRKD2     PN400521chr19:
47207570-47207570
GAexonicUnknownnonsynonymous SNVNM_001079882
NM_016457
NM_001079880
NM_001079881
c.C274T
c.C745T
c.C745T
c.C745T
p.R92C
p.R249C
p.R249C
p.R249C
24.78.237E-6Leblond2019 E
PRKD2     PN400548chr19:
47207570-47207570
GAexonicUnknownnonsynonymous SNVNM_001079882
NM_016457
NM_001079880
NM_001079881
c.C274T
c.C745T
c.C745T
c.C745T
p.R92C
p.R249C
p.R249C
p.R249C
24.78.237E-6Leblond2019 E
PRKD2     7-0253-004chr19:
47194851-47194851
ATintronicDe novo--Yuen2017 G
PRKD2     7-0148-003chr19:
47217307-47217307
TGUTR5De novo--Yuen2017 G
PRKD2     P1401chr19:
47207870-47207870
CTexonicDe novononsynonymous SNVNM_001079882
NM_016457
NM_001079880
NM_001079881
c.G77A
c.G548A
c.G548A
c.G548A
p.S26N
p.S183N
p.S183N
p.S183N
16.78-Hashimoto2016 E
PRKD2     PN400280chr19:
47207570-47207570
GAexonicUnknownnonsynonymous SNVNM_001079882
NM_016457
NM_001079880
NM_001079881
c.C274T
c.C745T
c.C745T
c.C745T
p.R92C
p.R249C
p.R249C
p.R249C
24.78.237E-6Leblond2019 E
PRKD2     PN400506chr19:
47207570-47207570
GAexonicUnknownnonsynonymous SNVNM_001079882
NM_016457
NM_001079880
NM_001079881
c.C274T
c.C745T
c.C745T
c.C745T
p.R92C
p.R249C
p.R249C
p.R249C
24.78.237E-6Leblond2019 E
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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