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Results for "ATP23"

Variant Events: 30

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
ATP23     2-1237-003chr12:
58629896-58629896
GTintergenicDe novo--Yuen2017 G
ATP23     5-0111-003chr12:
58834600-58834600
TGintergenicDe novo--Yuen2017 G
ATP23     1-0022-004chr12:
58754052-58754052
AGintergenicDe novo--Yuen2017 G
ATP23     2-1295-003chr12:
58442801-58442801
TAintergenicDe novo--Yuen2016 G
Yuen2017 G
ATP23     1-0022-003chr12:
58754052-58754052
AGintergenicDe novo--Yuen2016 G
ATP23     7-0250-003chr12:
58754127-58754127
GAintergenicDe novo--Yuen2017 G
ATP23     2-1633-003chr12:
58425666-58425666
ACintergenicDe novo--Yuen2017 G
ATP23     AU3729303chr12:
58812335-58812335
CTintergenicDe novo--Yuen2017 G
ATP23     1-0385-003chr12:
58651456-58651456
CGintergenicDe novo--Yuen2017 G
ATP23     1-0269-003chr12:
58734932-58734932
TGintergenicDe novo--Yuen2017 G
ATP23     1-0530-003chr12:
58441596-58441596
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
ATP23     AU4314302chr12:
58754028-58754028
AGintergenicDe novo--Yuen2017 G
ATP23     1-0522-003chr12:
58353885-58353885
GTintergenicDe novo--Yuen2017 G
ATP23     AU1955302chr12:
58549040-58549040
CGintergenicDe novo--Yuen2017 G
ATP23     2-0299-005chr12:
58588191-58588191
ACintergenicDe novo--Yuen2017 G
ATP23     1-0556-003chr12:
58764429-58764432
CTTTCTTintergenicDe novo--Yuen2017 G
ATP23     7-0024-003chr12:
58788642-58788642
GAintergenicDe novo--Yuen2017 G
ATP23     AU3840302chr12:
58671217-58671217
TCintergenicDe novo--Yuen2017 G
ATP23     AU4212303chr12:
58425183-58425183
CTintergenicDe novo--Yuen2017 G
ATP23     2-1382-003chr12:
58938251-58938251
TCintergenicDe novo--Yuen2016 G
ATP23     2-0081-003chr12:
58674232-58674232
AGintergenicDe novo--Yuen2017 G
ATP23     AU2156303chr12:
58547678-58547678
GAintergenicDe novo--Yuen2017 G
ATP23     AU3779301chr12:
58659796-58659796
AGintergenicDe novo--Yuen2017 G
ATP23     2-1346-003chr12:
58484284-58484284
AGintergenicDe novo--Yuen2017 G
ATP23     AU3692301chr12:
58340390-58340390
AGintronicDe novo--Yuen2017 G
ATP23     2-1093-005chr12:
58345601-58345601
GAexonicDe novononsynonymous SNVNM_033276c.G376Ap.E126K36.0-Yuen2017 G
ATP23     AU047704chr12:
58684625-58684625
TCintergenicDe novo--Yuen2017 G
ATP23     1-0973-003chr12:
58457526-58457526
TCintergenicDe novo--Yuen2017 G
ATP23     AU3905302chr12:
58444789-58444789
GAintergenicDe novo--Yuen2017 G
ATP23     60-2027chr12:
58565718-58565718
GTintergenicDe novo--Michaelson2012 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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