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Results for "FKBP9"

Variant Events: 6

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
FKBP9     AU070007chr7:
33022348-33022348
AGintronicDe novo--Yuen2017 G
FKBP9     ASC_CA_69_A2chr7:
33044911-33044911
CTexonicDe novononsynonymous SNVNM_001284343
NM_007270
NM_001284341
c.C965T
c.C1661T
c.C1820T
p.T322I
p.T554I
p.T607I
7.616-Satterstrom2020 E
FKBP9     5-0140-003chr7:
33019946-33019946
GAintronicDe novo-4.538E-5Yuen2017 G
FKBP9     AU3984301chr7:
32998678-32998678
CGintronicDe novo--Yuen2017 G
FKBP9     AU079605chr7:
33026769-33026769
GAintronicDe novo--Yuen2017 G
FKBP9     72-0745chr7:
33015967-33015967
CTexonicInheritednonsynonymous SNVNM_007270
NM_001284341
c.C559T
c.C718T
p.H187Y
p.H240Y
3.4038.238E-6Patowary2019 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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