Variant Results

or

or

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

2-0126-004

chr14:
73801002-73801003

CT

C

intronic

De novo

-

-

Yuen2017 G

NUMB

13298.p1

chr14:
73799412-73799412

T

A

intronic

De novo

-

-

Turner2016 G

NUMB

1-0292-005

chr14:
73936026-73936026

A

G

intergenic

De novo

-

-

Yuen2017 G

NUMB

74-0075

chr14:
73928740-73928740

G

A

intergenic

De novo

-

-

Michaelson2012 G

NUMB

13298.p1

chr14:
73799418-73799418

A

C

intronic

De novo

-

-

Turner2016 G

NUMB

2-1168-003

chr14:
73753668-73753668

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NUMB

AU006A

chr14:
73743597-73743597

G

A

exonic

De novo

nonsynonymous SNV

NM_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
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

NUMB

1-0756-003

chr14:
73767395-73767395

G

A

intronic

De novo

-

-

Yuen2017 G

NUMB

AU007503

chr14:
73930160-73930160

T

A

intergenic

De novo

-

-

Yuen2017 G

NUMB

AU4487302

chr14:
73800768-73800768

T

G

intronic

De novo

-

-

Yuen2017 G

NUMB

AU007503

chr14:
73930295-73930295

G

A

intergenic

De novo

-

-

Yuen2017 G

NUMB

74-0075

chr14:
73930160-73930160

T

A

intergenic

De novo

-

-

Michaelson2012 G

NUMB

12529.p1

chr14:
73941190-73941190

G

A

intergenic

De novo

-

-

Turner2016 G

NUMB

74-0075

chr14:
73930295-73930295

G

A

intergenic

De novo

-

-

Michaelson2012 G

NUMB

12529.p1

chr14:
73941193-73941193

C

T

intergenic

De novo

-

-

Turner2016 G

NUMB

13641.p1

chr14:
73789816-73789816

C

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

NUMB

1-0533-003

chr14:
73900656-73900656

C

T

intronic

De novo

-

-

Yuen2017 G

NUMB

AU007503

chr14:
73928740-73928740

G

A

intergenic

De novo

-

-

Yuen2017 G

NUMB

1-0171-005

chr14:
73799439-73799439

T

TTGCACC

intronic

De novo

-

-

Yuen2017 G

NUMB

1-0138-003

chr14:
73795393-73795393

A

T

intronic

De novo

-

-

Yuen2017 G

NUMB

1-0560-003

chr14:
73826892-73826892

A

G

intronic

De novo

-

-

Yuen2017 G

NUMB

AU2525302

chr14:
73874557-73874560

CAAA

CAAAA

intronic

De novo

-

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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