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Results for "PANK4"

Variant Events: 16

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
PANK4     PN400283chr1:
2453133-2453134
CGCintronicUnknown--Leblond2019 E
PANK4     PN400394chr1:
2453133-2453134
CGCintronicUnknown--Leblond2019 E
PANK4     PN400347chr1:
2453133-2453134
CGCintronicUnknown--Leblond2019 E
PANK4     PN400407chr1:
2453133-2453134
CGCintronicUnknown--Leblond2019 E
PANK4     PN400515chr1:
2453133-2453134
CGCintronicUnknown--Leblond2019 E
PANK4     PN400209chr1:
2453133-2453134
CGCintronicUnknown--Leblond2019 E
PANK4     PN400391chr1:
2453133-2453134
CGCintronicUnknown--Leblond2019 E
PANK4     PN400457chr1:
2453133-2453134
CGCintronicUnknown--Leblond2019 E
PANK4     PN400493chr1:
2453133-2453134
CGCintronicUnknown--Leblond2019 E
PANK4     PN400111chr1:
2453133-2453134
CGCintronicUnknown--Leblond2019 E
PANK4     PN400170chr1:
2453133-2453134
CGCintronicUnknown--Leblond2019 E
PANK4     PN400125chr1:
2453133-2453134
CGCintronicUnknown--Leblond2019 E
PANK4     PN400514chr1:
2453133-2453134
CGCintronicUnknown--Leblond2019 E
PANK4     PN400434chr1:
2453133-2453134
CGCintronicUnknown--Leblond2019 E
PANK4     PN400171chr1:
2453133-2453134
CGCintronicUnknown--Leblond2019 E
PANK4     PN400579chr1:
2453133-2453134
CGCintronicUnknown--Leblond2019 E
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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