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Results for "AHI1"

Variant Events: 16

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
AHI1     1-0067-004chr6:
135770395-135770395
TGintronicDe novo--Yuen2017 G
AHI1     14505.p1chr6:
135754219-135754219
GTexonicDe novosynonymous SNVNM_001134830
NM_001134832
NM_017651
NM_001134831
c.C2212A
c.C2212A
c.C2212A
c.C2212A
p.R738R
p.R738R
p.R738R
p.R738R
--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
AHI1     1-0556-003chr6:
135789775-135789775
ATintronicDe novo--Yuen2017 G
AHI1     11608.p1chr6:
135774505-135774505
GAexonicDe novononsynonymous SNVNM_001134830
NM_001134832
NM_017651
NM_001134831
c.C1414T
c.C1414T
c.C1414T
c.C1414T
p.R472W
p.R472W
p.R472W
p.R472W
17.95-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
AHI1     AU011704chr6:
135640596-135640596
GCintronicDe novo--Yuen2017 G
AHI1     AU2988303chr6:
135684775-135684775
GAintronicDe novo--Yuen2017 G
AHI1     AU-22000chr6:
135732649-135732649
TCexonicInheritednonsynonymous SNVNM_001134830
NM_001134832
NM_017651
NM_001134831
c.A2798G
c.A2798G
c.A2798G
c.A2798G
p.Y933C
p.Y933C
p.Y933C
p.Y933C
16.480.004Yu2013 E
AHI1     1-0274-003chr6:
135792710-135792710
CCAAATTintronicDe novo--Yuen2017 G
AHI1     1-0708-003chr6:
135663117-135663117
ACintronicDe novo--Yuen2017 G
AHI1     G01-GEA-184-HIchr6:
135644406-135644406
GAexonicDe novosynonymous SNVNM_001134830
NM_017651
NM_001134831
c.C3222T
c.C3222T
c.C3222T
p.R1074R
p.R1074R
p.R1074R
7.68.544E-6Satterstrom2020 E
AHI1     AU4260303chr6:
135802215-135802215
CAintronicDe novo--Yuen2017 G
AHI1     iHART1064chr6:
135754219-135754219
GAexonicMaternalstopgainNM_001134830
NM_001134832
NM_017651
NM_001134831
c.C2212T
c.C2212T
c.C2212T
c.C2212T
p.R738X
p.R738X
p.R738X
p.R738X
16.211.657E-5Ruzzo2019 G
AHI1     iHART1629chr6:
135752437-135752437
GCexonicMaternalstopgainNM_001134830
NM_001134832
NM_017651
NM_001134831
c.C2282G
c.C2282G
c.C2282G
c.C2282G
p.S761X
p.S761X
p.S761X
p.S761X
36.0-Ruzzo2019 G
AHI1     74-0117chr6:
135640596-135640596
GCintronicDe novo--Michaelson2012 G
AHI1     Lim2017:70236chr6:
135774505-135774505
GAexonicDe novononsynonymous SNVNM_001134830
NM_001134832
NM_017651
NM_001134831
c.C1414T
c.C1414T
c.C1414T
c.C1414T
p.R472W
p.R472W
p.R472W
p.R472W
17.95-Lim2017 E
AHI1     iHART2116chr6:
135611560-135611560
CTsplicingPaternalsplicing-8.286E-6Ruzzo2019 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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