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Results for "PRKD2"

Variant Events: 21

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--Trost2022 G
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
Trost2022 G
Zhou2022 GE
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     1580001chr19:
47197254-47197254		GTexonicDe novononsynonymous SNVNM_001079882
NM_016457
NM_001079880
NM_001079881		c.C983A
c.C1454A
c.C1454A
c.C1454A		p.T328N
p.T485N
p.T485N
p.T485N		5.143-Fu2022 E
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-Fu2022 E
PRKD2     SP0119205chr19:
47192837-47192837		TGexonicDe novononsynonymous SNVNM_001079882
NM_016457
NM_001079880
NM_001079881		c.A1457C
c.A1928C
c.A1928C
c.A1928C		p.K486T
p.K643T
p.K643T
p.K643T		29.3-Antaki2022 GE
Fu2022 E
Zhou2022 GE
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     MSSNG00445-003chr19:
47198250-47198250		GAintronicDe novo--Trost2022 G
PRKD2     AU055603chr19:
47183728-47183728		TGintronicDe novo--Trost2022 G
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
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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     SP0065219chr19:
47192777-47192777		GAintronicDe novo--Fu2022 E
Trost2022 G
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--Trost2022 G
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
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