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Results for "TMEM106B"

Variant Events: 9

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
TMEM106B     A11chr7:
12361543-12361543
ACintergenicDe novo--Wu2018 G
TMEM106B     1-0007-003chr7:
12279542-12279542
TCintergenicDe novo--Yuen2017 G
TMEM106B     AU027506chr7:
12283392-12283392
AGintergenicDe novo--Yuen2017 G
TMEM106B     AU055004chr7:
12320880-12320880
AGintergenicDe novo--Yuen2017 G
TMEM106B     1-0522-003chr7:
12256606-12256606
GAintronicDe novo--Yuen2017 G
TMEM106B     1-0558-003chr7:
12311166-12311166
CTintergenicDe novo--Yuen2017 G
TMEM106B     SJD_34chr7:
12258122-12258122
GAexonicMaternalnonsynonymous SNVNM_001134232
NM_018374
c.G256A
c.G256A
p.D86N
p.D86N
33.0-Toma2013 E
TMEM106B     1-0357-003chr7:
12265150-12265150
CGintronicDe novo--Yuen2017 G
TMEM106B     1-0206-005chr7:
12282197-12282197
TCintergenicDe 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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