or
or
Exact

Results for "TMEM51"

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
TMEM51     3-0197-000chr1:
15503915-15503923
AGGGAAGTCAintronicDe novo--Trost2022 G
TMEM51     AU0255-0202chr1:
15546034-15546034
CTexonicDe novononsynonymous SNVNM_001136217
NM_018022
NM_001136216
NM_001136218
c.C557T
c.C557T
c.C557T
c.C557T
p.P186L
p.P186L
p.P186L
p.P186L
11.44-Fu2022 E
TMEM51     MSSNG00027-004chr1:
15541621-15541621
CTexonicDe novononsynonymous SNVNM_001136217
NM_018022
NM_001136216
NM_001136218
c.C38T
c.C38T
c.C38T
c.C38T
p.A13V
p.A13V
p.A13V
p.A13V
34.02.0E-4Trost2022 G
TMEM51     3-0612-000chr1:
15519545-15519545
GTintronicDe novo--Trost2022 G
TMEM51     AU1404301chr1:
15571521-15571521
GAintergenicDe novo--Yuen2017 G
TMEM51     1-0458-003chr1:
15544615-15544615
GAintronicDe novo--Trost2022 G
Yuen2017 G
TMEM51     CC1403_203chr1:
15546185-15546185
ACexonicDe novosynonymous SNVNM_001136217
NM_018022
NM_001136216
NM_001136218
c.A708C
c.A708C
c.A708C
c.A708C
p.P236P
p.P236P
p.P236P
p.P236P
--Fu2022 E
TMEM51     DEASD_0148_001chr1:
15545879-15545879
CTexonicDe novosynonymous SNVNM_001136217
NM_018022
NM_001136216
NM_001136218
c.C402T
c.C402T
c.C402T
c.C402T
p.Y134Y
p.Y134Y
p.Y134Y
p.Y134Y
-8.396E-6DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TMEM51     1-0609-003chr1:
15550271-15550271
CTintergenicDe novo--Yuen2017 G
TMEM51     MSSNG00422-004chr1:
15542072-15542072
CTintronicDe novo--Trost2022 G
Source Variant Information

, -

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
More