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Results for "ZHX2"

Variant Events: 27

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
ZHX2     4-0040-004chr8:
123934720-123934720
TAintronicDe novo--Trost2022 G
ZHX2     AU4235303chr8:
123969901-123969901
GAintronicDe novo--Trost2022 G
Yuen2017 G
ZHX2     4-0040-004chr8:
123934752-123934752
GAintronicDe novo--Trost2022 G
ZHX2     2-1765-003chr8:
123855470-123855470
TGintronicDe novo--Trost2022 G
ZHX2     7-0387-004chr8:
123907654-123907654
GAintronicDe novo--Trost2022 G
ZHX2     AU006804chr8:
123835313-123835313
GAintronicDe novo--Trost2022 G
Yuen2017 G
ZHX2     2-1286-003chr8:
123804480-123804480
ACintronicDe novo--Trost2022 G
ZHX2     AU024004chr8:
123823038-123823038
TAintronicDe novo--Trost2022 G
ZHX2     AU1952305chr8:
123846212-123846212
GAintronicDe novo--Yuen2017 G
ZHX2     MT_50.3chr8:
123954896-123954896
CTintronicDe novo--Trost2022 G
ZHX2     SP0047808chr8:
123965341-123965341
CAexonicDe novononsynonymous SNVNM_014943c.C1591Ap.Q531K11.34-Trost2022 G
ZHX2     14011.p1chr8:
123964947-123964947
AGexonicDe novosynonymous SNVNM_014943c.A1197Gp.G399G--Krumm2015 E
ZHX2     2-1176-003chr8:
124019292-124019292
CAintergenicDe novo--Yuen2017 G
ZHX2     3-0456-000chr8:
123933888-123933907
AAGAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAintronicDe novo--Yuen2017 G
ZHX2     AU4237301chr8:
123921028-123921028
AGintronicDe novo--Trost2022 G
Yuen2017 G
ZHX2     2-1406-003chr8:
123866242-123866242
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
ZHX2     3-0439-000chr8:
123850353-123850353
TAintronicDe novo--Yuen2016 G
ZHX2     SP0024057chr8:
123965245-123965245
GAexonicDe novononsynonymous SNVNM_014943c.G1495Ap.V499I13.91.654E-5Fu2022 E
Trost2022 G
Zhou2022 GE
ZHX2     1-0218-003chr8:
123794430-123794431
ATAintronicDe novo--Yuen2017 G
ZHX2     AU4286302chr8:
123898061-123898061
GAintronicDe novo--Yuen2017 G
ZHX2     Wang2023:838chr8:
123964430-123964430
CGexonicDe novononsynonymous SNVNM_014943c.C680Gp.S227W14.5-Wang2023 E
ZHX2     2-1245-003chr8:
124005289-124005289
GAintergenicDe novo--Yuen2017 G
ZHX2     2-1374-003chr8:
123810992-123810992
GAintronicDe novo--Trost2022 G
Yuen2017 G
ZHX2     SMHC00838s000chr8:
123964430-123964430
CGexonicDe novononsynonymous SNVNM_014943c.C680Gp.S227W14.5-Yuan2023 E
ZHX2     5-0055-004chr8:
123942870-123942874
CCTGGCintronicDe novo--Yuen2017 G
ZHX2     7-0168-003chr8:
123980669-123980669
AGintronicDe novo--Trost2022 G
Yuen2017 G
ZHX2     2-1357-003chr8:
123853890-123853890
GAintronicDe novo--Trost2022 G
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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