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Results for "TMEM144"

Variant Events: 10

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
TMEM144     7-0374-003chr4:
159136068-159136068
GAintronicDe novo--Trost2022 G
TMEM144     2-0713-003chr4:
159230199-159230199
GTintergenicDe novo--Yuen2017 G
TMEM144     MSSNG00360-004chr4:
159166603-159166604
ATAintronicDe novo--Trost2022 G
TMEM144     2-1185-003chr4:
159289501-159289501
CTintergenicDe novo--Yuen2017 G
TMEM144     5-0114-003chr4:
159335663-159335663
TAintergenicDe novo--Yuen2017 G
TMEM144     11792.p1chr4:
159320048-159320048
CAintergenicDe novo--Werling2018 G
TMEM144     2-1642-003Achr4:
159154105-159154105
AGexonicDe novononsynonymous SNVNM_018342c.A466Gp.M156V12.22-Trost2022 G
Zhou2022 GE
TMEM144     1-0406-003chr4:
159130433-159130433
GAupstreamDe novo--Yuen2017 G
TMEM144     1-0898-003chr4:
159166545-159166545
CTintronicDe novo--Trost2022 G
Yuen2017 G
TMEM144     SP0012767chr4:
159154144-159154144
GCintronicDe novo10.95-Fu2022 E
Zhou2022 GE
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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