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Results for "BICC1"

Variant Events: 30

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
BICC1     2-1366-003chr10:
60613685-60613685
ATintergenicDe novo--Yuen2017 G
BICC1     1-0604-003chr10:
60562577-60562577
CAintronicDe novo--Yuen2017 G
BICC1     1-0522-003chr10:
60732922-60732922
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
BICC1     2-1094-005chr10:
60410566-60410566
CTintronicDe novo--Yuen2017 G
BICC1     13543.p1chr10:
60329920-60329920
GAintronicDe novo--Turner2016 G
BICC1     AU4211304chr10:
60520787-60520788
TATintronicDe novo--Yuen2017 G
BICC1     7-0255-003chr10:
60548857-60548857
CTintronicDe novo--Yuen2017 G
BICC1     AU1698301chr10:
60577008-60577008
CAintronicDe novo--Yuen2017 G
BICC1     Lee2014:1chr10:
60549454-60549454
AGexonicDe novononsynonymous SNVNM_001080512c.A808Gp.M270V9.0731.648E-5Lee2014 E
BICC1     AU4159301chr10:
60554893-60554893
GAintronicDe novo--Yuen2017 G
BICC1     AU070703chr10:
60673976-60673976
CGintergenicDe novo--Yuen2017 G
BICC1     1-0403-004chr10:
60749969-60749969
CTintergenicDe novo--Yuen2017 G
BICC1     2-0238-004chr10:
60604333-60604333
CTintergenicDe novo--Yuen2017 G
BICC1     Lee2014:2chr10:
60549454-60549454
AGexonicDe novononsynonymous SNVNM_001080512c.A808Gp.M270V9.0731.648E-5Lee2014 E
BICC1     2-1213-003chr10:
60397901-60397901
GTintronicDe novo--Yuen2017 G
BICC1     1-0336-004chr10:
60347589-60347589
GAintronicDe novo--Yuen2017 G
BICC1     12367.p1chr10:
60558214-60558214
CGexonicDe novosynonymous SNVNM_001080512c.C1422Gp.L474L--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
BICC1     1-0986-003chr10:
60463483-60463483
CTintronicDe novo--Yuen2017 G
BICC1     2-1339-003chr10:
60401391-60401391
AGintronicDe novo--Yuen2017 G
BICC1     657-05-104554chr10:
60273012-60273012
GAexonicDe novononsynonymous SNVNM_001080512c.G109Ap.A37T13.5-Satterstrom2020 E
BICC1     1-0466-003chr10:
60743530-60743530
ATintergenicDe novo--Yuen2017 G
BICC1     AU4150301chr10:
60400496-60400496
GAintronicDe novo--Yuen2017 G
BICC1     1-0104-003chr10:
60518610-60518610
GGCATintronicDe novo--Yuen2017 G
BICC1     2-0129-004chr10:
60482095-60482095
CTintronicDe novo--Yuen2017 G
BICC1     AU2495301chr10:
60406032-60406032
AGintronicDe novo--Yuen2017 G
BICC1     A29chr10:
60370530-60370530
CTintronicDe novo--Wu2018 G
BICC1     AU4024303chr10:
60382343-60382343
ACintronicDe novo--Yuen2017 G
BICC1     5-0050-003chr10:
60534418-60534418
AGintronicDe novo--Yuen2017 G
BICC1     11099.p1chr10:
60362806-60362806
CGintronicDe novo--Werling2018 G
BICC1     2-1497-003chr10:
60657219-60657219
ATintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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