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Results for "MFRP"

Variant Events: 18

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
MFRP     Li2017:18921chr11:
119212671-119212671		CTexonicUnknownnonsynonymous SNVNM_031433c.G1411Ap.V471M22.92.494E-5Li2017 T
MFRP     SSC07048chr11:
119214624-119214625		CTCexonicDe novoframeshift deletionNM_031433c.1025delAp.Q342fs--Fu2022 E
Trost2022 G
MFRP     13168.p1 Complex Event; expand row to view variants  De novoframeshift deletionNM_031433
NM_031433		c.1025delA
c.1024delC		p.Q342fs
p.Q342fs		--Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE
MFRP     12060.p1chr11:
119215650-119215650		CTexonicDe novononsynonymous SNVNM_031433c.G706Ap.V236I20.77.441E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MFRP     11239.p1chr11:
119216209-119216209		CTexonicMosaic, De novononsynonymous SNVNM_031433c.G562Ap.A188T6.296-Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Zhou2022 GE
MFRP     12060_p1chr11:
119215650-119215650		CTexonicDe novononsynonymous SNVNM_031433c.G706Ap.V236I20.77.441E-5Fu2022 E
MFRP     SP0148708chr11:
119214657-119214657		GCexonicDe novononsynonymous SNVNM_031433c.C993Gp.I331M16.44-Fu2022 E
Trost2022 G
Zhou2022 GE
MFRP     TRE_1684chr11:
119216260-119216260		CTexonicDe novononsynonymous SNVNM_031433c.G511Ap.V171M6.3634.965E-5Fu2022 E
MFRP     SP0016877chr11:
119215081-119215081		CAexonicDe novononsynonymous SNVNM_031433c.G919Tp.G307C19.01-Fu2022 E
Trost2022 G
Zhou2022 GE
MFRP     Viggiano2022:22.3chr11:
119212383-119212383		GAexonicPaternalnonsynonymous SNVNM_031433c.C1615Tp.R539C21.23.395E-5Viggiano2022 GT
MFRP     Li2017:39chr11:
119212671-119212671		CTexonicUnknownnonsynonymous SNVNM_031433c.G1411Ap.V471M22.92.494E-5Li2017 T
MFRP     Li2017:23717chr11:
119212596-119212596		CTexonicUnknownnonsynonymous SNVNM_031433c.G1486Ap.E496K32.02.491E-5Li2017 T
MFRP     SSC02434chr11:
119216209-119216209		CTexonicMosaicnonsynonymous SNVNM_031433c.G562Ap.A188T6.296-Lim2017 E
MFRP     Viggiano2022:22.4chr11:
119212383-119212383		GAexonicPaternalnonsynonymous SNVNM_031433c.C1615Tp.R539C21.23.395E-5Viggiano2022 GT
MFRP     220-9733-202chr11:
119213365-119213365		CAexonicInheritednonsynonymous SNVNM_031433c.G1328Tp.W443L38.03.351E-5Stessman2017 T
MFRP     M13371 Complex Event; expand row to view variants  Unknownframeshift deletion, frameshift substitutionNM_031433
NM_031433		c.1333_1334del
c.1333_1335A		p.D445fs
N/A		-2.519E-5Guo2018 T
Wang2016 T
MFRP     AU017703chr11:
119212265-119212265		TAexonicDe novononsynonymous SNVNM_031433c.A1733Tp.Q578L0.498-Yuen2017 G
Zhou2022 GE
MFRP     HN0031.p1chr11:
119216279-119216279		GGAexonicPaternalframeshift insertionNM_031433c.491_492insTp.Y164fs-3.314E-5Guo2018 T
Source Variant Information

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Paper Information
Title
Authors
Technology
Variant source
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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.
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