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Results for "NUMB"

Variant Events: 22

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
NUMB     2-0126-004chr14:
73801002-73801003
CTCintronicDe novo--Yuen2017 G
NUMB     13298.p1chr14:
73799412-73799412
TAintronicDe novo--Turner2016 G
NUMB     1-0292-005chr14:
73936026-73936026
AGintergenicDe novo--Yuen2017 G
NUMB     74-0075chr14:
73928740-73928740
GAintergenicDe novo--Michaelson2012 G
NUMB     13298.p1chr14:
73799418-73799418
ACintronicDe novo--Turner2016 G
NUMB     2-1168-003chr14:
73753668-73753668
CTintronicDe novo-4.0E-4Yuen2016 G
Yuen2017 G
NUMB     AU006Achr14:
73743597-73743597
GAexonicDe novononsynonymous SNVNM_001005745
NM_001005744
NM_003744
NM_001005743
c.C1468T
c.C1501T
c.C1612T
c.C1645T
p.H490Y
p.H501Y
p.H538Y
p.H549Y
8.067-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
NUMB     1-0756-003chr14:
73767395-73767395
GAintronicDe novo--Yuen2017 G
NUMB     AU007503chr14:
73930160-73930160
TAintergenicDe novo--Yuen2017 G
NUMB     AU4487302chr14:
73800768-73800768
TGintronicDe novo--Yuen2017 G
NUMB     AU007503chr14:
73930295-73930295
GAintergenicDe novo--Yuen2017 G
NUMB     74-0075chr14:
73930160-73930160
TAintergenicDe novo--Michaelson2012 G
NUMB     12529.p1chr14:
73941190-73941190
GAintergenicDe novo--Turner2016 G
NUMB     74-0075chr14:
73930295-73930295
GAintergenicDe novo--Michaelson2012 G
NUMB     12529.p1chr14:
73941193-73941193
CTintergenicDe novo--Turner2016 G
NUMB     13641.p1chr14:
73789816-73789816
CGintronicDe novo-8.389E-6Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
NUMB     1-0533-003chr14:
73900656-73900656
CTintronicDe novo--Yuen2017 G
NUMB     AU007503chr14:
73928740-73928740
GAintergenicDe novo--Yuen2017 G
NUMB     1-0171-005chr14:
73799439-73799439
TTTGCACCintronicDe novo--Yuen2017 G
NUMB     1-0138-003chr14:
73795393-73795393
ATintronicDe novo--Yuen2017 G
NUMB     1-0560-003chr14:
73826892-73826892
AGintronicDe novo--Yuen2017 G
NUMB     AU2525302chr14:
73874557-73874560
CAAACAAAAintronicDe 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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