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Results for "TPBG"

Variant Events: 23

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
TPBG     2-0503-004chr6:
83335079-83335079
CTintergenicDe novo--Yuen2017 G
TPBG     2-1170-003chr6:
83506707-83506707
TCintergenicDe novo--Yuen2017 G
TPBG     7-0141-003chr6:
83109031-83109034
GCCCGCCintergenicDe novo--Yuen2017 G
TPBG     2-0045-003chr6:
83468373-83468373
ATintergenicDe novo--Yuen2017 G
TPBG     2-1277-004chr6:
83232830-83232830
GAintergenicDe novo--Yuen2017 G
TPBG     AU1404301chr6:
83527200-83527200
TAintergenicDe novo--Yuen2017 G
TPBG     AU1698302chr6:
83374283-83374283
GTintergenicDe novo--Yuen2017 G
TPBG     AU3703302chr6:
83474086-83474086
CTintergenicDe novo--Yuen2017 G
TPBG     09C82110chr6:
83075603-83075603
CAexonicDe novononsynonymous SNVNM_001166392
NM_006670
c.C925A
c.C925A
p.L309I
p.L309I
19.91-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
TPBG     1-0191-003chr6:
83374862-83374862
CGintergenicDe novo--Yuen2017 G
TPBG     2-1376-003chr6:
83303416-83303416
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
TPBG     AU011604chr6:
83414720-83414720
GTintergenicDe novo--Yuen2017 G
TPBG     AU021204chr6:
83394604-83394604
AGintergenicDe novo--Yuen2017 G
TPBG     2-1290-003chr6:
83362067-83362067
CAintergenicDe novo--Yuen2017 G
TPBG     AU4444304chr6:
83327938-83327938
GAintergenicDe novo--Yuen2017 G
TPBG     1-0380-003chr6:
83088004-83088004
CGintergenicDe novo--Yuen2017 G
TPBG     AU3761301chr6:
83218618-83218618
GAintergenicDe novo--Yuen2017 G
TPBG     2-1153-003chr6:
83464996-83464996
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
TPBG     AU050403chr6:
83153324-83153324
TAintergenicDe novo--Yuen2017 G
TPBG     1-0969-003chr6:
83144680-83144680
ATintergenicDe novo--Yuen2017 G
TPBG     2-1357-004chr6:
83502444-83502444
GAintergenicDe novo--Yuen2017 G
TPBG     AU4024303chr6:
83456483-83456483
CGintergenicDe novo--Yuen2017 G
TPBG     2-1626-003chr6:
83316645-83316658
TTTATTATTATTATTTTATTATTATintergenicDe 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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