or
or
Exact

Results for "SCAPER"

Variant Events: 29

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
SCAPER     1-0511-003chr15:
77004938-77004938
AGintronicDe novo--Yuen2017 G
SCAPER     1-0201-005chr15:
77038298-77038298
GCintronicDe novo--Yuen2017 G
SCAPER     2-1117-003chr15:
76657573-76657573
TCintronicDe novo--Yuen2016 G
Yuen2017 G
SCAPER     AU3847302chr15:
76641556-76641556
ATintronicDe novo--Yuen2017 G
SCAPER     JASD_Fam0043chr15:
76726486-76726486
TCexonicDe novononsynonymous SNVNM_020843
NM_001145923
c.A3244G
c.A2506G
p.T1082A
p.T836A
13.81-Takata2018 E
SCAPER     1-0522-003chr15:
76840010-76840010
CTintronicDe novo--Yuen2016 G
Yuen2017 G
SCAPER     2-1146-003chr15:
76950794-76950794
GAintronicDe novo--Yuen2017 G
SCAPER     AU4186302chr15:
76929051-76929051
TGintronicDe novo--Yuen2017 G
SCAPER     AU3777302chr15:
76765072-76765072
TCintronicDe novo--Yuen2017 G
SCAPER     1-0215-006chr15:
77200095-77200095
ACintergenicDe novo--Yuen2017 G
SCAPER     AU2140306chr15:
77017266-77017266
GAintronicDe novo--Yuen2017 G
SCAPER     5-0065-003chr15:
76802803-76802805
CATCintronicDe novo--Yuen2017 G
SCAPER     AU4056302chr15:
76658252-76658252
CTintronicDe novo--Yuen2017 G
SCAPER     AU4235303chr15:
76783117-76783117
TAintronicDe novo--Yuen2017 G
SCAPER     1-0567-004chr15:
76723511-76723512
TATintronicDe novo--Yuen2017 G
SCAPER     PN400517chr15:
76995252-76995252
TAexonicUnknownnonsynonymous SNVNM_020843
NM_001145923
c.A2339T
c.A1601T
p.D780V
p.D534V
26.7-Leblond2019 E
SCAPER     AU4069302chr15:
77157280-77157280
AGintronicDe novo--Yuen2017 G
SCAPER     1-0383-003chr15:
76768763-76768778
TTTTCTTTCTTTCTTTTTTTCTTTCTTTintronicDe novo--Yuen2017 G
SCAPER     AU3866301chr15:
76666461-76666461
TCintronicDe novo--Yuen2017 G
SCAPER     2-1239-003chr15:
76899700-76899700
GTintronicDe novo--Yuen2017 G
SCAPER     2-0238-003chr15:
76649006-76649006
GCintronicDe novo--Yuen2017 G
SCAPER     PN400114chr15:
76995252-76995252
TAexonicUnknownnonsynonymous SNVNM_020843
NM_001145923
c.A2339T
c.A1601T
p.D780V
p.D534V
26.7-Leblond2019 E
SCAPER     1-0153-004chr15:
77117097-77117097
ACintronicDe novo--Yuen2017 G
SCAPER     1-0563-003chr15:
76664132-76664132
GAintronicDe novo--Yuen2017 G
SCAPER     AU3997301chr15:
77165256-77165256
GCintronicDe novo--Yuen2017 G
SCAPER     5-0004-003chr15:
77092485-77092485
TTTACintronicDe novo--Yuen2017 G
SCAPER     A22chr15:
77027637-77027637
CGintronicDe novo--Wu2018 G
SCAPER     AU4463303chr15:
76762873-76762873
CTintronicDe novo--Yuen2017 G
SCAPER     2-1425-004chr15:
76933426-76933426
TTAintronicDe novo--Yuen2017 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