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Results for "PANX1"

Variant Events: 42

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
PANX1     2-0296-004chr11:
93909079-93909079
GCintronicDe novo--Yuen2017 G
PANX1     2-0198-003chr11:
93977420-93977420
AGintergenicDe novo--Yuen2017 G
PANX1     7-0253-003chr11:
93968396-93968396
TCintergenicDe novo--Yuen2017 G
PANX1     2-1441-003chr11:
93967864-93967864
AGintergenicDe novo--Yuen2017 G
PANX1     2-1313-003chr11:
93879976-93879976
ACintronicDe novo--Yuen2016 G
Yuen2017 G
PANX1     2-1153-003chr11:
93957534-93957534
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
PANX1     2-1168-003chr11:
93865769-93865781
GGTGTGTGTGTGTGGTGTGTGTGTintronicDe novo--Yuen2017 G
PANX1     AU4347301chr11:
93969987-93969987
TCintergenicDe novo--Yuen2017 G
PANX1     AU4347301chr11:
93970210-93970210
CTintergenicDe novo--Yuen2017 G
PANX1     1-0203-004chr11:
93901489-93901506
ACTAACCAGATGGATGGGAintronicDe novo--Yuen2017 G
PANX1     1-0075-003chr11:
93968931-93968931
TGintergenicDe novo--Yuen2017 G
PANX1     AU4347301chr11:
93971658-93971658
GAintergenicDe novo--Yuen2017 G
PANX1     AU4347301chr11:
93971674-93971674
GAintergenicDe novo--Yuen2017 G
PANX1     AU061003chr11:
93970089-93970089
CTintergenicDe novo--Yuen2017 G
PANX1     AU3124302chr11:
93971694-93971694
CTintergenicDe novo--Yuen2017 G
PANX1     AU031403chr11:
93971212-93971212
GCintergenicDe novo--Yuen2017 G
PANX1     12494.p1chr11:
93913089-93913089
CTexonicMosaicsynonymous SNVNM_015368c.C867Tp.P289P-1.678E-5Krupp2017 E
PANX1     1-0007-003chr11:
93967444-93967444
TAintergenicDe novo--Yuen2017 G
PANX1     1-0007-003chr11:
93967991-93967991
AGintergenicDe novo--Yuen2017 G
PANX1     1-0007-003chr11:
93972226-93972226
TCintergenicDe novo--Yuen2017 G
PANX1     1-0007-003chr11:
93968931-93968931
TGintergenicDe novo--Yuen2017 G
PANX1     1-0007-003chr11:
93969414-93969414
AGintergenicDe novo--Yuen2017 G
PANX1     5-0083-003chr11:
93969987-93969987
TCintergenicDe novo--Yuen2017 G
PANX1     1-0121-003chr11:
93972226-93972226
TCintergenicDe novo--Yuen2017 G
PANX1     1-0121-003chr11:
93969414-93969414
AGintergenicDe novo--Yuen2017 G
PANX1     AU3053301chr11:
93967991-93967991
AGintergenicDe novo--Yuen2017 G
PANX1     AU4379301chr11:
93967444-93967444
TAintergenicDe novo--Yuen2017 G
PANX1     1-0121-003chr11:
93967444-93967444
TAintergenicDe novo--Yuen2017 G
PANX1     AU4379301chr11:
93972226-93972226
TCintergenicDe novo--Yuen2017 G
PANX1     3-0436-000chr11:
94016680-94016680
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
PANX1     AU3154302chr11:
93967991-93967991
AGintergenicDe novo--Yuen2017 G
PANX1     AU3154302chr11:
93968931-93968931
TGintergenicDe novo--Yuen2017 G
PANX1     AU3154302chr11:
93972226-93972226
TCintergenicDe novo--Yuen2017 G
PANX1     7-0253-005chr11:
93968396-93968396
TCintergenicDe novo--Yuen2017 G
PANX1     5-0116-003chr11:
93977856-93977856
GAintergenicDe novo--Yuen2017 G
PANX1     1-0674-003chr11:
93970335-93970335
TCintergenicDe novo--Yuen2017 G
PANX1     2-1174-006chr11:
93947659-93947659
CAintergenicDe novo--Yuen2017 G
PANX1     SSC04824chr11:
93913089-93913089
CTexonicMosaicsynonymous SNVNM_015368c.C867Tp.P289P-1.678E-5Lim2017 E
PANX1     1-0554-003chr11:
93985471-93985471
ATintergenicDe novo--Yuen2017 G
PANX1     1-0674-003chr11:
93967991-93967991
AGintergenicDe novo--Yuen2017 G
PANX1     1-0674-003chr11:
93967864-93967864
AGintergenicDe novo--Yuen2017 G
PANX1     7-0253-003chr11:
93967444-93967444
TAintergenicDe 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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