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Results for "MAPKBP1"

Variant Events: 20

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
MAPKBP1     36926chr15:
42105962-42105962
TCexonicDe novosynonymous SNVNM_001265611
NM_014994
NM_001128608
c.T963C
c.T963C
c.T981C
p.A321A
p.A321A
p.A327A
--Fu2022 E
Trost2022 G
MAPKBP1     2-1093-009chr15:
42073366-42073366
CTintronicDe novo--Trost2022 G
Yuen2017 G
Zhou2022 GE
MAPKBP1     Lim2017:36926chr15:
42105962-42105962
TCexonicDe novosynonymous SNVNM_001265611
NM_014994
NM_001128608
c.T963C
c.T963C
c.T981C
p.A321A
p.A321A
p.A327A
--Lim2017 E
MAPKBP1     REACH000555chr15:
42075800-42075800
GAintronicDe novo--Trost2022 G
MAPKBP1     SP0024517chr15:
42114895-42114895
CAintronicDe novo-8.281E-5Fu2022 E
Trost2022 G
MAPKBP1     7-0353-003chr15:
42104187-42104187
CTexonicDe novosynonymous SNVNM_001128608
NM_001265611
NM_014994
c.C360T
c.C360T
c.C360T
p.D120D
p.D120D
p.D120D
-1.649E-5Trost2022 G
Zhou2022 GE
MAPKBP1     14-547chr15:
42100430-42100430
CAintronicDe novo--Trost2022 G
MAPKBP1     5-0038-003chr15:
42068571-42068571
TCintronicDe novo--Trost2022 G
MAPKBP1     7-0392-004chr15:
42073435-42073435
GAintronicDe novo--Trost2022 G
MAPKBP1     AU2089301chr15:
42106065-42106065
ATintronicDe novo--Trost2022 G
Yuen2017 G
MAPKBP1     SP0144741chr15:
42115905-42115905
CTexonicDe novononsynonymous SNVNM_014994
NM_001128608
c.C3859T
c.C3877T
p.R1287W
p.R1293W
11.533.296E-5Fu2022 E
Trost2022 G
Zhou2022 GE
MAPKBP1     SP0034921chr15:
42104284-42104284
GAexonicDe novononsynonymous SNVNM_001128608
NM_001265611
NM_014994
c.G457A
c.G457A
c.G457A
p.G153S
p.G153S
p.G153S
34.0-Fu2022 E
Trost2022 G
Zhou2022 GE
MAPKBP1     AU030Achr15:
42067447-42067447
GCUTR5De novo--Satterstrom2020 E
Trost2022 G
MAPKBP1     14579.p1chr15:
42105962-42105962
TCexonicDe novosynonymous SNVNM_001265611
NM_014994
NM_001128608
c.T963C
c.T963C
c.T981C
p.A321A
p.A321A
p.A327A
--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
MAPKBP1     13239.p1chr15:
42100218-42100218
TCintronicDe novo--Werling2018 G
MAPKBP1     14-547chr15:
42100442-42100442
CTintronicDe novo--Trost2022 G
MAPKBP1     SP0189936chr15:
42115696-42115696
GAexonicDe novononsynonymous SNVNM_014994
NM_001128608
c.G3650A
c.G3668A
p.R1217Q
p.R1223Q
9.0747.443E-5Trost2022 G
MAPKBP1     1360001chr15:
42115714-42115714
ATexonicDe novononsynonymous SNVNM_014994
NM_001128608
c.A3668T
c.A3686T
p.D1223V
p.D1229V
19.92-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MAPKBP1     12297.p1chr15:
42116026-42116026
GTexonicMosaicnonsynonymous SNVNM_014994
NM_001128608
c.G3980T
c.G3998T
p.G1327V
p.G1333V
5.198-Krupp2017 E
MAPKBP1     98HI0084Cchr15:
42105088-42105088
GTintronicDe novo--Satterstrom2020 E
Trost2022 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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