or
or
Exact

Results for "STRIP2"

Variant Events: 18

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
STRIP2     AU1448301chr7:
129083701-129083701
AGintronicDe novo--Trost2022 G
Yuen2017 G
STRIP2     1-0522-003chr7:
129078731-129078731
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
STRIP2     AU4027306 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
STRIP2     12036-1chr7:
129107099-129107099
GAintronicDe novo--Fu2022 E
STRIP2     SP0009650chr7:
129074277-129074277
GAUTR5De novo--Fu2022 E
Trost2022 G
STRIP2     2-1382-003chr7:
129125422-129125422
ATexonicDe novononsynonymous SNVNM_020704c.A2257Tp.I753F24.7-Yuen2016 G
Yuen2017 G
Zhou2022 GE
STRIP2     SP0044764chr7:
129091550-129091550
GAexonicDe novononsynonymous SNVNM_001134336
NM_020704
c.G371A
c.G371A
p.R124Q
p.R124Q
31.03.3E-5Fu2022 E
Trost2022 G
Zhou2022 GE
STRIP2     Lim2017:37110chr7:
129094327-129094327
GAexonicDe novononsynonymous SNVNM_001134336
NM_020704
c.G665A
c.G665A
p.C222Y
p.C222Y
14.67-Lim2017 E
STRIP2     BRK-28-01chr7:
129095132-129095132
AGexonicDe novononsynonymous SNVNM_001134336
NM_020704
c.A754G
c.A754G
p.M252V
p.M252V
22.9-Abdi2023 G
STRIP2     14652.p1chr7:
129094327-129094327
GAexonicDe novononsynonymous SNVNM_001134336
NM_020704
c.G665A
c.G665A
p.C222Y
p.C222Y
14.67-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
STRIP2     7-0011-003chr7:
129077367-129077367
TTTGintronicDe novo--Trost2022 G
STRIP2     2-1154-003chr7:
129128732-129128732
CTdownstreamDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
STRIP2     37110chr7:
129094327-129094327
GAexonicDe novononsynonymous SNVNM_001134336
NM_020704
c.G665A
c.G665A
p.C222Y
p.C222Y
14.67-Fu2022 E
Trost2022 G
STRIP2     SP0166320 Complex Event; expand row to view variants  De novononsynonymous SNVNM_020704
NM_020704
c.C2285T
c.G2284A
p.A762V
p.A762T
32.0-Trost2022 G
Trost2022 G
STRIP2     2-1261-003chr7:
129119361-129119361
TGintronicDe novo--Trost2022 G
STRIP2     2-1261-003chr7:
129119364-129119365
CTCintronicDe novo--Trost2022 G
STRIP2     1-1179-003chr7:
129115548-129115548
TTGCGintronicDe novo--Trost2022 G
STRIP2     2-1261-003chr7:
129119358-129119358
TCintronicDe novo--Trost2022 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