Variant Results

or

Results for "YWHAZ"

Variant Events: 15

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

YWHAZ

XA214

chr8:
101937171-101937171

C

T

exonic

De novo

nonsynonymous SNV

NM_001135699
NM_001135700
NM_001135701
NM_001135702
NM_003406
NM_145690

c.G391A
c.G391A
c.G391A
c.G391A
c.G391A
c.G391A

p.E131K
p.E131K
p.E131K
p.E131K
p.E131K
p.E131K

36.0

-

Fu2022 E
Satterstrom2020 E

YWHAZ

AU030104

chr8:
102002684-102002684

G

T

intergenic

De novo

-

Yuen2017 G

YWHAZ

AU030103

chr8:
102002684-102002684

G

T

intergenic

De novo

-

Yuen2017 G

YWHAZ

AU4467302

chr8:
102008285-102008285

G

A

intergenic

De novo

-

Yuen2017 G

YWHAZ

MT_160

chr8:
101936203-101936203

A

AT

exonic

Maternal

frameshift insertion

NM_001135699
NM_001135700
NM_001135701
NM_001135702
NM_003406
NM_145690

c.657dupA
c.657dupA
c.657dupA
c.657dupA
c.657dupA
c.657dupA

p.L220fs
p.L220fs
p.L220fs
p.L220fs
p.L220fs
p.L220fs

-

Toma2013 E

YWHAZ

7-0078-003

chr8:
101996057-101996057

A

T

intergenic

De novo

-

Yuen2017 G

YWHAZ

2-1416-003

chr8:
101969499-101969499

C

T

intergenic

De novo

-

Yuen2017 G

YWHAZ

SP0048845

chr8:
101964010-101964010

C

T

intronic

De novo

-

Fu2022 E

YWHAZ

1-0579-003

chr8:
102059577-102059577

A

G

intergenic

De novo

-

Yuen2017 G

YWHAZ

SP0089300

chr8:
101963578-101963578

G

A

intronic

De novo

-

Fu2022 E

YWHAZ

SP0010673

chr8:
101937183-101937183

G

A

exonic

De novo

nonsynonymous SNV

NM_001135699
NM_001135700
NM_001135701
NM_001135702
NM_003406
NM_145690

c.C379T
c.C379T
c.C379T
c.C379T
c.C379T
c.C379T

p.R127C
p.R127C
p.R127C
p.R127C
p.R127C
p.R127C

21.3

-

Fu2022 E

YWHAZ

2-1182-003

chr8:
102016084-102016084

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

YWHAZ

5-0014-003

chr8:
102044224-102044224

A

G

intergenic

De novo

-

Yuen2017 G

YWHAZ

2-1416-004

chr8:
101969499-101969499

C

T

intergenic

De novo

-

Yuen2017 G

YWHAZ

2-0007-004

chr8:
101955198-101955198

C

T

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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