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Results for "ANO5"

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
ANO5     Uddin2014:13chr11:
22276997-22276997
CTexonicDe novostopgainNM_001142649
NM_213599
c.C1258T
c.C1261T
p.Q420X
p.Q421X
41.0-Uddin2014 E
ANO5     AU4032307chr11:
22328685-22328685
ACintergenicDe novo--Yuen2017 G
ANO5     SSC05830chr11:
22276997-22276997
CTexonicDe novostopgainNM_001142649
NM_213599
c.C1258T
c.C1261T
p.Q420X
p.Q421X
41.0-Lim2017 E
ANO5     AU4237301chr11:
22357838-22357838
TCintergenicDe novo--Yuen2017 G
ANO5     7-0250-003chr11:
22272213-22272213
GAintronicDe novo--Yuen2017 G
ANO5     2-0081-003chr11:
22314204-22314209
ACACGTAintergenicDe novo--Yuen2017 G
ANO5     DEASD_0028_001chr11:
22242608-22242608
AGintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
ANO5     AU0780302chr11:
22265070-22265070
AGintronicDe novo--Yuen2017 G
ANO5     2-1269-003chr11:
22305462-22305462
GCdownstreamDe novo--Yuen2016 G
Yuen2017 G
ANO5     12792.p1chr11:
22276997-22276997
CTexonicDe novostopgainNM_001142649
NM_213599
c.C1258T
c.C1261T
p.Q420X
p.Q421X
41.0-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
ANO5     1-0804-003chr11:
22293835-22293835
ACintronicDe novo--Yuen2017 G
ANO5     A22chr11:
22304143-22304143
CTUTR3De novo--Wu2018 G
ANO5     2-1475-003chr11:
22288711-22288711
TCintronicDe novo--Yuen2017 G
ANO5     1-0402-004chr11:
22342195-22342195
GAintergenicDe novo--Yuen2017 G
ANO5     iHART1889chr11:
22284590-22284590
GAsplicingPaternalsplicing20.89.103E-5Ruzzo2019 G
ANO5     2-1434-003chr11:
22217605-22217605
TCintronicDe novo--Yuen2016 G
Yuen2017 G
ANO5     AU2793303chr11:
22282442-22282442
AGintronicDe novo--Yuen2017 G
ANO5     iHART1890chr11:
22284590-22284590
GAsplicingPaternalsplicing20.89.103E-5Ruzzo2019 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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