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Results for "BTBD11"

Variant Events: 24

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
BTBD11     1-0404-003chr12:
107823330-107823330
GAintronicDe novo--Yuen2017 G
BTBD11     1-0320-004chr12:
107803717-107803717
ATintronicDe novo--Yuen2017 G
BTBD11     2-1729-003chr12:
108059572-108059572
AGintergenicDe novo--Yuen2017 G
BTBD11     AU006Achr12:
107937726-107937726
CTexonicDe novononsynonymous SNVNM_001018072c.C1300Tp.R434C20.6-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
BTBD11     AU3716301chr12:
107748158-107748158
CGintronicDe novo--Yuen2017 G
BTBD11     2-0022-004chr12:
107769502-107769502
GAintronicDe novo--Yuen2017 G
BTBD11     AU078503chr12:
107713983-107713983
GCintronicDe novo--Yuen2017 G
BTBD11     2-1322-003chr12:
107825804-107825804
GTintronicDe novo--Yuen2017 G
BTBD11     DEASD_1046_001chr12:
108013828-108013830
CCTCexonicDe novoframeshift deletionNM_001017523
NM_001018072
c.1130_1131del
c.2519_2520del
p.P377fs
p.P840fs
--Satterstrom2020 E
BTBD11     11398.p1chr12:
107728290-107728290
GAintronicDe novo--Werling2018 G
BTBD11     1-0277-003chr12:
108072120-108072120
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
BTBD11     2-1437-003chr12:
108013985-108013985
AAGCTGGAGGTTintronicDe novo--Yuen2017 G
BTBD11     2-0214-003chr12:
107899444-107899444
TCintronicDe novo--Yuen2017 G
BTBD11     2-1295-003chr12:
107730562-107730562
ATintronicDe novo--Yuen2016 G
Yuen2017 G
BTBD11     AU3811305chr12:
107809083-107809083
CTintronicDe novo--Yuen2017 G
BTBD11     2-1629-003chr12:
107994340-107994340
AGintronicDe novo--Yuen2017 G
BTBD11     2-0126-004chr12:
107825804-107825804
GTintronicDe novo--Yuen2017 G
BTBD11     2-0309-005chr12:
107926187-107926187
AATGCATGintronicDe novo--Yuen2017 G
BTBD11     2-1336-003chr12:
107921071-107921071
GAintronicDe novo--Yuen2017 G
BTBD11     G01-GEA-45-HIchr12:
108043118-108043118
GAintronicDe novo--Satterstrom2020 E
BTBD11     12550.p1chr12:
108035955-108035955
CTintronicDe novo--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
BTBD11     AU3586303chr12:
107734674-107734674
CTintronicDe novo--Yuen2017 G
BTBD11     7-0127-003chr12:
107965353-107965353
AGintronicDe novo--Yuen2017 G
BTBD11     1-0186-005chr12:
107902225-107902225
TTGintronicDe 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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