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Results for "NBEAL1"

Variant Events: 21

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
NBEAL1     5-0071-003chr2:
204004322-204004322
CCTCTGintronicDe novo--Yuen2017 G
NBEAL1     5-0071-003chr2:
204056048-204056048
AATintronicDe novo--Yuen2017 G
NBEAL1     iHART3115chr2:
204016187-204016187
GAsplicingMaternalsplicing24.6-Ruzzo2019 G
NBEAL1     1-0556-003chr2:
203964651-203964651
AGintronicDe novo--Yuen2017 G
NBEAL1     1-0552-003chr2:
203896251-203896253
ACCACintronicDe novo--Yuen2017 G
NBEAL1     2-0240-004chr2:
203883714-203883714
GGTTGAAAAintronicDe novo--Yuen2017 G
NBEAL1     iHART3114chr2:
204016187-204016187
GAsplicingMaternalsplicing24.6-Ruzzo2019 G
NBEAL1     1-0158-012chr2:
204056048-204056048
AATintronicDe novo--Yuen2017 G
NBEAL1     1-0160-004chr2:
203883714-203883714
GGTTGAAAAintronicDe novo--Yuen2017 G
NBEAL1     iHART1029chr2:
203922178-203922178
TGsplicingMaternalsplicing24.0-Ruzzo2019 G
NBEAL1     1-0453-003chr2:
204095741-204095741
AGintergenicDe novo--Yuen2017 G
NBEAL1     2-1132-003chr2:
204004322-204004322
CCTCTGintronicDe novo--Yuen2017 G
NBEAL1     AU1894304chr2:
203940527-203940528
TGTintronicDe novo--Yuen2017 G
NBEAL1     12869.p1chr2:
203972384-203972384
AGexonicDe novosynonymous SNVNM_001114132c.A1335Gp.Q445Q--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
NBEAL1     7-0078-003chr2:
203918378-203918378
GTintronicDe novo--Yuen2017 G
NBEAL1     2-1370-003chr2:
203925311-203925311
ATintronicDe novo--Yuen2016 G
Yuen2017 G
NBEAL1     1-0473-003chr2:
204056048-204056048
AATintronicDe novo--Yuen2017 G
NBEAL1     JASD_Fam0201chr2:
203949293-203949293
GTsplicingDe novosplicing24.6-Takata2018 E
NBEAL1     5-0015-004chr2:
203984866-203984866
AGintronicDe novo--Yuen2017 G
NBEAL1     AU1909304chr2:
203986287-203986287
AGintronicDe novo--Yuen2017 G
NBEAL1     SSC04995chr2:
203972384-203972384
AGexonicDe novosynonymous SNVNM_001114132c.A1335Gp.Q445Q--Lim2017 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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