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Results for "BTBD11"

Variant Events: 47

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--Trost2022 G
Yuen2017 G
BTBD11     7-0450-003chr12:
107923219-107923219
GCintronicDe novo--Trost2022 G
BTBD11     1-0320-004chr12:
107803717-107803717
ATintronicDe novo--Trost2022 G
Yuen2017 G
BTBD11     MSSNG00089-003chr12:
108008380-108008380
AGintronicDe novo--Trost2022 G
BTBD11     REACH000671chr12:
107916000-107916000
GAintronicDe novo--Trost2022 G
BTBD11     1024chr12:
107922895-107922895
TGintronicDe novo--Trost2022 G
BTBD11     SP0041115chr12:
107713887-107713887
TCintronicDe novo--Fu2022 E
Trost2022 G
BTBD11     REACH000089chr12:
107877216-107877216
GAintronicDe novo--Trost2022 G
BTBD11     AU006Achr12:
107937726-107937726
CTexonicDe novononsynonymous SNVNM_001018072c.C1300Tp.R434C20.6-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
BTBD11     SP0078841chr12:
108011211-108011211
CGexonicDe novononsynonymous SNVNM_001017523
NM_001018072
c.C840G
c.C2229G
p.H280Q
p.H743Q
24.2-Fu2022 E
Trost2022 G
Zhou2022 GE
BTBD11     AU2218301chr12:
107880807-107880807
ATintronicDe novo--Trost2022 G
BTBD11     2-0022-004chr12:
107769502-107769502
GAintronicDe novo--Trost2022 G
Yuen2017 G
BTBD11     REACH000141chr12:
107831834-107831834
CGintronicDe novo--Trost2022 G
BTBD11     AU078503chr12:
107713983-107713983
GCintronicDe novo--Trost2022 G
Yuen2017 G
BTBD11     MSSNG00426-003chr12:
107914368-107914368
GAexonicDe novononsynonymous SNVNM_001018072c.G1240Ap.E414K20.92.473E-5Trost2022 G
Zhou2022 GE
BTBD11     MSSNG00340-004chr12:
107852287-107852287
GTintronicDe novo--Trost2022 G
BTBD11     11398.p1chr12:
107728290-107728290
GAintronicDe novo--Werling2018 G
BTBD11     SMHC01992s000chr12:
108012026-108012026
GAexonicDe novononsynonymous SNVNM_001017523
NM_001018072
c.G934A
c.G2323A
p.A312T
p.A775T
17.85-Yuan2023 E
BTBD11     3-0819-000chr12:
108036920-108036920
CTintronicDe novo--Trost2022 G
BTBD11     7-0281-003chr12:
108053898-108053898
CCTTdownstreamDe novo--Trost2022 G
BTBD11     2-0214-003chr12:
107899444-107899444
TCintronicDe novo--Trost2022 G
Yuen2017 G
BTBD11     2-1295-003chr12:
107730562-107730562
ATintronicDe novo--Yuen2016 G
Yuen2017 G
BTBD11     1-0738-003chr12:
108020766-108020766
ATintronicDe novo--Trost2022 G
BTBD11     MSSNG00423-003chr12:
108031963-108031963
TAintronicDe novo--Trost2022 G
BTBD11     AU3811305chr12:
107809083-107809083
CTintronicDe novo--Trost2022 G
Yuen2017 G
BTBD11     2-0309-005chr12:
107926187-107926187
AATGCATGintronicDe novo--Trost2022 G
Yuen2017 G
BTBD11     2-1336-003chr12:
107921071-107921071
GAintronicDe novo--Yuen2017 G
BTBD11     12550.p1chr12:
108035955-108035955
CTintronicDe novo--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
BTBD11     7-0127-003chr12:
107965353-107965353
AGintronicDe novo--Yuen2017 G
BTBD11     1-0186-005chr12:
107902225-107902225
TTGintronicDe novo--Yuen2017 G
BTBD11     SSC04978chr12:
108035955-108035955
CTintronicDe novo--Fu2022 E
Trost2022 G
BTBD11     2-1729-003chr12:
108059572-108059572
AGintergenicDe novo--Yuen2017 G
BTBD11     AU3716301chr12:
107748158-107748158
CGintronicDe novo--Yuen2017 G
BTBD11     2-1322-003chr12:
107825804-107825804
GTintronicDe novo--Trost2022 G
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
Trost2022 G
Zhou2022 GE
BTBD11     1-0277-003chr12:
108072120-108072120
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
BTBD11     2-1437-003chr12:
108013985-108013985
AAGCTGGAGGTTintronicDe novo--Trost2022 G
Yuen2017 G
BTBD11     2-1629-003chr12:
107994340-107994340
AGintronicDe novo--Trost2022 G
Yuen2017 G
BTBD11     MSSNG00021-004chr12:
107773158-107773158
CTintronicDe novo--Trost2022 G
BTBD11     7-0351-004chr12:
107823746-107823747
TATintronicDe novo--Trost2022 G
BTBD11     2-0126-004chr12:
107825804-107825804
GTintronicDe novo--Trost2022 G
Yuen2017 G
BTBD11     SP0010656chr12:
107713381-107713381
GAexonicDe novononsynonymous SNVNM_001018072c.G664Ap.D222N21.2-Fu2022 E
Zhou2022 GE
BTBD11     5-0005-003chr12:
107762836-107762836
AGintronicDe novo--Trost2022 G
BTBD11     G01-GEA-45-HIchr12:
108043118-108043118
GAintronicDe novo--Satterstrom2020 E
Trost2022 G
BTBD11     MSSNG00352-003chr12:
107770891-107770891
TCintronicDe novo--Trost2022 G
BTBD11     AU3586303chr12:
107734674-107734674
CTintronicDe novo--Trost2022 G
Yuen2017 G
BTBD11     2-0139-003chr12:
107760931-107760931
GAintronicDe novo--Trost2022 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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