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Results for "MFRP"

Variant Events: 11

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     Li2017:39chr11:
119212671-119212671
CTexonicUnknownnonsynonymous SNVNM_031433c.G1411Ap.V471M22.92.494E-5Li2017 T
MFRP     Li2017:18921chr11:
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     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
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     12060.p1chr11:
119215650-119215650
CTexonicDe novononsynonymous SNVNM_031433c.G706Ap.V236I20.77.441E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
MFRP     11239.p1chr11:
119216209-119216209
CTexonicMosaic, De novononsynonymous SNVNM_031433c.G562Ap.A188T6.296-Dou2017 E
Iossifov2014 E
Kosmicki2017 E
MFRP     AU017703chr11:
119212265-119212265
TAexonicDe novononsynonymous SNVNM_031433c.A1733Tp.Q578L0.498-Yuen2017 G
MFRP     HN0031.p1chr11:
119216279-119216279
GGAexonicPaternalframeshift insertionNM_031433c.491_492insTp.Y164fs-3.314E-5Guo2018 T
Source Variant Information

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Source:

Paper alias:

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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
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