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Results for "FSTL1"

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
FSTL1     PN400292chr3:
120123782-120123782
CTexonicUnknownnonsynonymous SNVNM_007085c.G499Ap.E167K36.03.295E-5Leblond2019 E
FSTL1     PN400287chr3:
120123782-120123782
CTexonicUnknownnonsynonymous SNVNM_007085c.G499Ap.E167K36.03.295E-5Leblond2019 E
FSTL1     2-1581-003chr3:
120205689-120205689
GAintergenicDe novo--Yuen2017 G
FSTL1     AU1848302chr3:
120308161-120308161
CAintergenicDe novo--Yuen2017 G
FSTL1     AU3605304chr3:
120164796-120164796
GAintronicDe novo--Yuen2017 G
FSTL1     PN400506chr3:
120123782-120123782
CTexonicUnknownnonsynonymous SNVNM_007085c.G499Ap.E167K36.03.295E-5Leblond2019 E
FSTL1     5-0148-003chr3:
120137878-120137878
GAintronicDe novo--Yuen2017 G
FSTL1     AU3053302chr3:
120138005-120138005
CTintronicDe novo--Yuen2017 G
FSTL1     PN400410chr3:
120123782-120123782
CTexonicUnknownnonsynonymous SNVNM_007085c.G499Ap.E167K36.03.295E-5Leblond2019 E
FSTL1     7-0223-003chr3:
120115738-120115738
CGUTR3De novo--Yuen2017 G
FSTL1     PN400363chr3:
120123782-120123782
CTexonicUnknownnonsynonymous SNVNM_007085c.G499Ap.E167K36.03.295E-5Leblond2019 E
FSTL1     1-0261-004chr3:
120201064-120201064
GCintergenicDe novo--Yuen2017 G
FSTL1     5-0111-003chr3:
120312088-120312088
TCintergenicDe novo--Yuen2017 G
FSTL1     2-0296-004chr3:
120213250-120213253
TCTCTintergenicDe novo--Yuen2017 G
FSTL1     2-0289-004chr3:
120187758-120187758
CGintergenicDe novo--Yuen2017 G
FSTL1     11274.p1chr3:
120122083-120122083
GAintronicMosaic--Dou2017 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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