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Results for "YWHAZ"

Variant Events: 12

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     XA214chr8:
101937171-101937171
CTexonicDe novononsynonymous SNVNM_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-Satterstrom2020 E
YWHAZ     AU030104chr8:
102002684-102002684
GTintergenicDe novo--Yuen2017 G
YWHAZ     1-0579-003chr8:
102059577-102059577
AGintergenicDe novo--Yuen2017 G
YWHAZ     2-1182-003chr8:
102016084-102016084
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
YWHAZ     AU030103chr8:
102002684-102002684
GTintergenicDe novo--Yuen2017 G
YWHAZ     5-0014-003chr8:
102044224-102044224
AGintergenicDe novo--Yuen2017 G
YWHAZ     AU4467302chr8:
102008285-102008285
GAintergenicDe novo--Yuen2017 G
YWHAZ     MT_160chr8:
101936203-101936203
AATexonicMaternalframeshift insertionNM_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     2-1416-004chr8:
101969499-101969499
CTintergenicDe novo--Yuen2017 G
YWHAZ     7-0078-003chr8:
101996057-101996057
ATintergenicDe novo--Yuen2017 G
YWHAZ     2-0007-004chr8:
101955198-101955198
CTintronicDe novo--Yuen2017 G
YWHAZ     2-1416-003chr8:
101969499-101969499
CTintergenicDe 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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