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Results for "NBAS"

Variant Events: 28

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
NBAS     AU2019302chr2:
15340535-15340535
ATintronicDe novo--Yuen2017 G
NBAS     DEASD_0021_001chr2:
15698779-15698783
CACTTCintronicDe novo--Kosmicki2017 E
NBAS     AU2000302chr2:
15697558-15697558
TCintronicDe novo--Yuen2017 G
NBAS     3-0409-000 Complex Event; expand row to view variants  De novononsynonymous SNV, synonymous SNVNM_015909
NM_015909
c.C5226T
c.A5225T
p.H1742H
p.H1742L
21.7-Tammimies2015 E
Tammimies2015 E
NBAS     11089.p1chr2:
15668449-15668449
ATintronicDe novo--Turner2016 G
NBAS     5-0015-003chr2:
15384441-15384441
AGintronicDe novo--Yuen2017 G
NBAS     AU066104chr2:
15578137-15578137
GAintronicDe novo--Yuen2017 G
NBAS     2-1357-003chr2:
15385999-15385999
GCintronicDe novo--Yuen2017 G
NBAS     2-1581-003chr2:
15368223-15368223
CTintronicDe novo--Yuen2017 G
NBAS     AU009805chr2:
15378161-15378161
ACintronicDe novo--Yuen2017 G
NBAS     AU2863302chr2:
15351656-15351656
CTintronicDe novo--Yuen2017 G
NBAS     AU3263302chr2:
15459049-15459049
CAintronicDe novo--Yuen2017 G
NBAS     2-1267-003chr2:
15534689-15534689
TCintronicDe novo--Yuen2017 G
NBAS     547-09-112297chr2:
15506799-15506799
CGexonicDe novononsynonymous SNVNM_015909c.G3722Cp.R1241P20.2-Satterstrom2020 E
NBAS     SP0002235chr2:
15618415-15618415
TAsplicingDe novosplicing24.4-Feliciano2019 E
NBAS     AU072904chr2:
15680901-15680901
CTintronicDe novo--Yuen2017 G
NBAS     052-09-110820chr2:
15613325-15613325
TCintronicDe novo--Satterstrom2020 E
NBAS     DEASD_1009_001chr2:
15618354-15618354
GCexonicDe novononsynonymous SNVNM_015909c.C1143Gp.I381M11.418.327E-6Satterstrom2020 E
NBAS     iHART1739chr2:
15698725-15698726
TATexonicUnknownframeshift deletionNM_015909c.150delTp.F50fs--Ruzzo2019 G
NBAS     iHART1652chr2:
15698707-15698707
GAexonicPaternalstopgainNM_015909c.C169Tp.R57X37.0-Ruzzo2019 G
NBAS     iHART1738chr2:
15698725-15698726
TATexonicUnknownframeshift deletionNM_015909c.150delTp.F50fs--Ruzzo2019 G
NBAS     iHART1740chr2:
15698725-15698726
TATexonicUnknownframeshift deletionNM_015909c.150delTp.F50fs--Ruzzo2019 G
NBAS     2-1241-003chr2:
15513092-15513104
GCACACACACACAGCACACACACAintronicDe novo--Yuen2017 G
NBAS     AU003406chr2:
15404963-15404963
CTintronicDe novo--Yuen2017 G
NBAS     1-0265-003chr2:
15708069-15708069
GAintergenicDe novo--Yuen2017 G
NBAS     1-0978-003chr2:
15583370-15583370
AGintronicDe novo--Yuen2017 G
NBAS     iHART2051chr2:
15696945-15696945
TCsplicingPaternalsplicing18.171.652E-5Ruzzo2019 G
NBAS     iHART2049chr2:
15696945-15696945
TCsplicingPaternalsplicing18.171.652E-5Ruzzo2019 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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