or
or
Exact

Results for "APBB2"

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
APBB2     2-1375-003chr4:
40982988-40982988
GAintronicDe novo--Yuen2017 G
APBB2     7-0143-003chr4:
41166610-41166610
GAintronicDe novo--Yuen2017 G
APBB2     AU060703chr4:
40899089-40899089
AGintronicDe novo--Yuen2017 G
APBB2     1-0329-004chr4:
40936273-40936273
TCintronicDe novo--Yuen2017 G
APBB2     2-1281-003chr4:
41205654-41205654
AGintronicDe novo--Yuen2017 G
APBB2     AU4056302chr4:
41213082-41213082
GAintronicDe novo--Yuen2017 G
APBB2     2-1425-004chr4:
40884041-40884041
AAGACCATATintronicDe novo--Yuen2017 G
APBB2     1-0285-004chr4:
40814139-40814139
GGTTACUTR3De novo--Yuen2017 G
APBB2     AU2433302chr4:
41077829-41077829
AGintronicDe novo--Yuen2017 G
APBB2     1-0675-003chr4:
40836524-40836524
CTintronicDe novo--Yuen2017 G
APBB2     7-0192-003chr4:
40900084-40900084
GAintronicDe novo--Yuen2017 G
APBB2     AU2950301chr4:
40966913-40966913
AGintronicDe novo--Yuen2017 G
APBB2     1-0112-004chr4:
40824712-40824712
AGintronicDe novo--Yuen2017 G
APBB2     iHART2231chr4:
40947091-40947091
CAsplicingUnknownsplicing12.323.0E-4Ruzzo2019 G
APBB2     2-1094-005chr4:
40976578-40976578
GTintronicDe novo--Yuen2017 G
APBB2     iHART2230chr4:
40947091-40947091
CAsplicingUnknownsplicing12.323.0E-4Ruzzo2019 G
APBB2     1-0400-003chr4:
41067860-41067860
GAintronicDe novo--Yuen2017 G
APBB2     1-0990-003chr4:
40889777-40889780
TCCCTCCCCintronicDe novo--Yuen2017 G
APBB2     13169.p1chr4:
40818170-40818170
CGexonicMosaicnonsynonymous SNVNM_001166051
NM_001166052
NM_001166053
NM_001166054
NM_173075
NM_001166050
NM_004307
c.G572C
c.G572C
c.G572C
c.G572C
c.G2150C
c.G2216C
c.G2219C
p.R191P
p.R191P
p.R191P
p.R191P
p.R717P
p.R739P
p.R740P
20.8-Krupp2017 E
APBB2     AU4054302chr4:
41162374-41162374
GAintronicDe 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