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Results for "P4HA2"

Variant Events: 19

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
P4HA2     M26855chr5:
131531157-131531157		GCexonicMaternalnonsynonymous SNVNM_001017973
NM_001017974
NM_004199
NM_001142598
NM_001142599		c.C1382G
c.C1382G
c.C1388G
c.C1382G
c.C1388G		p.A461G
p.A461G
p.A463G
p.A461G
p.A463G		32.01.652E-5Guo2018 T
P4HA2     AU0285-0102chr5:
131534030-131534030		GAexonicDe novononsynonymous SNVNM_001017973
NM_001017974
NM_001142598		c.C1349T
c.C1349T
c.C1349T		p.A450V
p.A450V
p.A450V		34.01.653E-5Fu2022 E
P4HA2     M26951chr5:
131539503-131539503		GAexonicUnknownstopgainNM_001017973
NM_001017974
NM_004199
NM_001142598
NM_001142599		c.C1189T
c.C1189T
c.C1189T
c.C1189T
c.C1189T		p.R397X
p.R397X
p.R397X
p.R397X
p.R397X		42.08.273E-6Guo2018 T
Wang2016 T
P4HA2     M12441chr5:
131549719-131549719		CTexonicUnknownnonsynonymous SNVNM_001017973
NM_001017974
NM_004199
NM_001142598
NM_001142599		c.G359A
c.G359A
c.G359A
c.G359A
c.G359A		p.R120Q
p.R120Q
p.R120Q
p.R120Q
p.R120Q		36.0-Guo2018 T
Wang2016 T
P4HA2     13322.p1chr5:
131543433-131543433		TAexonicDe novononsynonymous SNVNM_001017973
NM_001017974
NM_004199
NM_001142598
NM_001142599		c.A1048T
c.A1048T
c.A1048T
c.A1048T
c.A1048T		p.I350F
p.I350F
p.I350F
p.I350F
p.I350F		36.0-Ji2016 E
Krumm2015 E
Krupp2017 E
Satterstrom2020 E
P4HA2     M03803chr5:
131549719-131549719		CTexonicMaternalnonsynonymous SNVNM_001017973
NM_001017974
NM_004199
NM_001142598
NM_001142599		c.G359A
c.G359A
c.G359A
c.G359A
c.G359A		p.R120Q
p.R120Q
p.R120Q
p.R120Q
p.R120Q		36.0-Guo2018 T
Wang2016 T
P4HA2     Shi2013:2chr5:
131545995-131545995		GAexonicInheritednonsynonymous SNVNM_001017973
NM_001017974
NM_004199
NM_001142598
NM_001142599		c.C691T
c.C691T
c.C691T
c.C691T
c.C691T		p.R231C
p.R231C
p.R231C
p.R231C
p.R231C		16.964.119E-5Shi2013 G
P4HA2     Shi2013:1chr5:
131545995-131545995		GAexonicInheritednonsynonymous SNVNM_001017973
NM_001017974
NM_004199
NM_001142598
NM_001142599		c.C691T
c.C691T
c.C691T
c.C691T
c.C691T		p.R231C
p.R231C
p.R231C
p.R231C
p.R231C		16.964.119E-5Shi2013 G
P4HA2     M15051chr5:
131531157-131531157		GCexonicMaternalnonsynonymous SNVNM_001017973
NM_001017974
NM_004199
NM_001142598
NM_001142599		c.C1382G
c.C1382G
c.C1388G
c.C1382G
c.C1388G		p.A461G
p.A461G
p.A463G
p.A461G
p.A463G		32.01.652E-5Guo2018 T
Wang2016 T
P4HA2     09C79907chr5:
131534615-131534615		TCexonicDe novononsynonymous SNVNM_001017973
NM_001017974
NM_004199
NM_001142598
NM_001142599		c.A1262G
c.A1262G
c.A1262G
c.A1262G
c.A1262G		p.Y421C
p.Y421C
p.Y421C
p.Y421C
p.Y421C		17.28-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
P4HA2     M20319 Complex Event; expand row to view variants  Maternalsplicing28.51.65E-5Guo2018 T
Wang2016 T
P4HA2     SSC11148chr5:
131549620-131549620		CTexonicDe novononsynonymous SNVNM_001017973
NM_001017974
NM_004199
NM_001142598
NM_001142599		c.G458A
c.G458A
c.G458A
c.G458A
c.G458A		p.G153E
p.G153E
p.G153E
p.G153E
p.G153E		29.2-Fu2022 E
Lim2017 E
P4HA2     M27826 Complex Event; expand row to view variants  Maternalsplicing28.51.65E-5Guo2018 T
Wang2016 T
P4HA2     SSC07028chr5:
131543433-131543433		TAexonicDe novononsynonymous SNVNM_001017973
NM_001017974
NM_004199
NM_001142598
NM_001142599		c.A1048T
c.A1048T
c.A1048T
c.A1048T
c.A1048T		p.I350F
p.I350F
p.I350F
p.I350F
p.I350F		36.0-Fu2022 E
Lim2017 E
P4HA2     M20600chr5:
131531157-131531157		GCexonicPaternalnonsynonymous SNVNM_001017973
NM_001017974
NM_004199
NM_001142598
NM_001142599		c.C1382G
c.C1382G
c.C1388G
c.C1382G
c.C1388G		p.A461G
p.A461G
p.A463G
p.A461G
p.A463G		32.01.652E-5Guo2018 T
Wang2016 T
P4HA2     M16097chr5:
131544863-131544863		CTexonicPaternalnonsynonymous SNVNM_001017973
NM_001017974
NM_004199
NM_001142598
NM_001142599		c.G871A
c.G871A
c.G871A
c.G871A
c.G871A		p.E291K
p.E291K
p.E291K
p.E291K
p.E291K		36.03.305E-5Guo2018 T
Wang2016 T
P4HA2     M15099chr5:
131534052-131534052		TAexonicMaternalstopgainNM_001017973
NM_001017974
NM_001142598		c.A1327T
c.A1327T
c.A1327T		p.K443X
p.K443X
p.K443X		43.0-Guo2018 T
Wang2016 T
P4HA2     M20612chr5:
131544863-131544863		CTexonicPaternalnonsynonymous SNVNM_001017973
NM_001017974
NM_004199
NM_001142598
NM_001142599		c.G871A
c.G871A
c.G871A
c.G871A
c.G871A		p.E291K
p.E291K
p.E291K
p.E291K
p.E291K		36.03.305E-5Guo2018 T
Wang2016 T
P4HA2     14213.p1chr5:
131549620-131549620		CTexonicDe novononsynonymous SNVNM_001017973
NM_001017974
NM_004199
NM_001142598
NM_001142599		c.G458A
c.G458A
c.G458A
c.G458A
c.G458A		p.G153E
p.G153E
p.G153E
p.G153E
p.G153E		29.2-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 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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