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Results for "TMEM132C"

Variant Events: 35

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
TMEM132C     14260.p1chr12:
128850406-128850406
TAintronicDe novo--Wilfert2021 G
TMEM132C     63-343chr12:
128807886-128807886
CTintronicDe novo--Michaelson2012 G
TMEM132C     5-0054-003chr12:
128961690-128961690
GCintronicDe novo--Yuen2017 G
TMEM132C     1-0345-004chr12:
128894595-128894595
TCintronicDe novo--Yuen2017 G
TMEM132C     7-0179-003chr12:
128792974-128792974
TCintronicDe novo--Yuen2017 G
TMEM132C     AU002903chr12:
128790969-128790969
GCintronicDe novo--Yuen2017 G
TMEM132C     AU4006302chr12:
128941899-128941899
ACintronicDe novo--Yuen2017 G
TMEM132C     3-0458-000Achr12:
129193007-129193007
GCdownstreamDe novo--Yuen2017 G
TMEM132C     1-0539-003chr12:
129230129-129230129
GTintergenicDe novo--Yuen2017 G
TMEM132C     2-1444-003chr12:
128887680-128887680
GAintronicDe novo--Yuen2016 G
Yuen2017 G
TMEM132C     1-0197-003chr12:
128962486-128962486
TAintronicDe novo--Yuen2017 G
TMEM132C     1-0469-003chr12:
128862728-128862728
CTintronicDe novo--Yuen2017 G
TMEM132C     1-0534-006chr12:
129067606-129067606
GTintronicDe novo--Yuen2017 G
TMEM132C     2-0068-003chr12:
128842826-128842826
GAintronicDe novo--Yuen2017 G
TMEM132C     iHART1042chr12:
129180592-129180593
ACAexonicMaternalframeshift deletionNM_001136103c.1874delCp.T625fs--Ruzzo2019 G
TMEM132C     AU1909304chr12:
129098267-129098267
GAintronicDe novo--Yuen2017 G
TMEM132C     2-1635-004chr12:
128812570-128812570
CTintronicDe novo--Yuen2017 G
TMEM132C     1-0971-003chr12:
129132767-129132767
AGintronicDe novo--Yuen2017 G
TMEM132C     AU4145301chr12:
128850697-128850697
GAintronicDe novo--Yuen2017 G
TMEM132C     AU3725302chr12:
129181816-129181816
CTexonicDe novosynonymous SNVNM_001136103c.C1977Tp.T659T--Yuen2017 G
TMEM132C     1-0454-003chr12:
128800425-128800425
CGintronicDe novo--Yuen2017 G
TMEM132C     2-1480-003chr12:
129116858-129116858
TCintronicDe novo--Yuen2016 G
Yuen2017 G
TMEM132C     1-0835-003chr12:
129028642-129028642
GAexonicDe novononsynonymous SNVNM_001136103c.G1115Ap.R372H12.242.0E-4Yuen2017 G
TMEM132C     AU4237304chr12:
128820243-128820243
TCintronicDe novo--Yuen2017 G
TMEM132C     AU3853302chr12:
129108982-129108982
GCintronicDe novo--Yuen2017 G
TMEM132C     1-0007-003chr12:
128762202-128762202
GTintronicDe novo--Yuen2017 G
TMEM132C     2-0012-003chr12:
129110510-129110510
ACintronicDe novo--Yuen2017 G
TMEM132C     1-0652-004chr12:
129201001-129201001
CTintergenicDe novo--Yuen2017 G
TMEM132C     2-1629-003chr12:
128781188-128781188
CTintronicDe novo--Yuen2017 G
TMEM132C     1-0139-005chr12:
128846690-128846690
GAintronicDe novo--Yuen2017 G
TMEM132C     2-1425-004chr12:
129038951-129038951
CTintronicDe novo--Yuen2017 G
TMEM132C     1-0826-003chr12:
129072688-129072688
TAintronicDe novo--Yuen2017 G
TMEM132C     1-0272-004chr12:
128794871-128794871
GCintronicDe novo--Yuen2017 G
TMEM132C     AU2035301chr12:
129002281-129002281
CAintronicDe novo--Yuen2017 G
TMEM132C     SSC03679chr12:
129181906-129181906
CGexonicDe novononsynonymous SNVNM_001136103c.C2067Gp.S689R11.782.0E-4Lim2017 E
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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