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Results for "MEGF6"

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
MEGF6     SSC11183chr1:
3519083-3519083
CTexonicDe novosynonymous SNVNM_001409c.G213Ap.P71P-4.287E-5Lim2017 E
MEGF6     14075.p1chr1:
3519049-3519050
ACAexonicDe novoframeshift deletionNM_001409c.246delGp.W82fs--Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
MEGF6     AU3912301chr1:
3406802-3406802
GAUTR3De novo--Yuen2017 G
MEGF6     14139.p1chr1:
3519083-3519083
CTexonicDe novosynonymous SNVNM_001409c.G213Ap.P71P-4.287E-5Krumm2015 E
Satterstrom2020 E
MEGF6     1-0493-003chr1:
3457192-3457192
TCintronicDe novo--Yuen2016 G
Yuen2017 G
MEGF6     2-1358-003chr1:
3532918-3532918
GTintergenicDe novo--Yuen2017 G
MEGF6     133343chr1:
3428641-3428641
TCexonicnonsynonymous SNVNM_001409c.A905Gp.N302S20.78.445E-6Woodbury-Smith2022 E
MEGF6     1-0068-003chr1:
3417015-3417015
GAintronicDe novo--Yuen2017 G
MEGF6     CC955.201chr1:
3511883-3511883
ACintronicDe novo--Satterstrom2020 E
MEGF6     AU002405chr1:
3500815-3500815
GAintronicDe novo--Yuen2017 G
MEGF6     AU4060306chr1:
3481907-3481907
GAintronicDe novo--Yuen2017 G
MEGF6     08C72540chr1:
3428259-3428259
GCintronicDe novo--Satterstrom2020 E
MEGF6     1-0448-003chr1:
3408639-3408639
CTintronicDe novo--Yuen2017 G
MEGF6     2-1506-003chr1:
3536121-3536121
CTintergenicDe novo--Yuen2017 G
MEGF6     7-0197-003chr1:
3473705-3473705
GAintronicDe novo--Yuen2017 G
MEGF6     14551.p1chr1:
3410464-3410464
CAsplicingMosaicsplicing8.346-Dou2017 E
MEGF6     AU056804chr1:
3413948-3413948
GAintronicDe novo--Yuen2017 G
MEGF6     AU4186302chr1:
3500449-3500449
CTintronicDe novo--Yuen2017 G
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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