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Results for "TMEM229A"

Variant Events: 19

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
TMEM229A     AU4392302chr7:
123972720-123972720
CTintergenicDe novo--Yuen2017 G
TMEM229A     13539.p1chr7:
123958270-123958270
TCintergenicDe novo--Turner2016 G
TMEM229A     AU0146302chr7:
123764197-123764197
GTintergenicDe novo--Yuen2017 G
TMEM229A     1-0025-006chr7:
123698933-123698933
TAintergenicDe novo--Yuen2017 G
TMEM229A     2-1442-003chr7:
123963126-123963126
TTAintergenicDe novo--Yuen2016 G
TMEM229A     2-1381-003chr7:
123937847-123937850
CTGTCTintergenicDe novo--Yuen2017 G
TMEM229A     11085.p1chr7:
123672649-123672649
CAexonicDe novononsynonymous SNVNM_001136002c.G409Tp.G137C10.972.0E-4Satterstrom2020 E
TMEM229A     7-0251-003chr7:
123691711-123691711
GTintergenicDe novo--Yuen2017 G
TMEM229A     1-0203-003chr7:
123893161-123893161
CAintergenicDe novo--Yuen2017 G
TMEM229A     2-1278-003chr7:
123940296-123940296
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
TMEM229A     AU046706chr7:
123939141-123939142
TCTintergenicDe novo--Yuen2017 G
TMEM229A     1-0683-004chr7:
123722029-123722038
AGCCTCACAGAintergenicDe novo--Yuen2017 G
TMEM229A     2-1373-003chr7:
123839851-123839851
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
TMEM229A     AU3811301chr7:
123716029-123716029
AGintergenicDe novo--Yuen2017 G
TMEM229A     AU2109302chr7:
123898721-123898721
AGintergenicDe novo--Yuen2017 G
TMEM229A     AU4234303chr7:
123868733-123868733
CAintergenicDe novo--Yuen2017 G
TMEM229A     AU2756306chr7:
123787165-123787165
GCintergenicDe novo--Yuen2017 G
TMEM229A     2-1196-003chr7:
123712421-123712421
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
TMEM229A     7-0251-003chr7:
123691713-123691713
TGintergenicDe novo--Yuen2017 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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