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Results for "MEGF8"

Variant Events: 12

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
MEGF8     08C76752chr19:
42866550-42866550
CTexonicDe novosynonymous SNVNM_001410
NM_001271938
c.C5658T
c.C5859T
p.R1886R
p.R1953R
--Satterstrom2020 E
MEGF8     AU3889305chr19:
42833198-42833198
CTintronicDe novo--Yuen2017 G
MEGF8     PN400499chr19:
42879810-42879810
GAexonicUnknownnonsynonymous SNVNM_001410
NM_001271938
c.G7220A
c.G7421A
p.R2407H
p.R2474H
28.80.005Leblond2019 E
MEGF8     AU1933302chr19:
42829699-42829699
GCdownstream;upstreamDe novo--Yuen2017 G
MEGF8     PN400100chr19:
42855822-42855822
CTexonicUnknownnonsynonymous SNVNM_001410
NM_001271938
c.C2809T
c.C3010T
p.R937W
p.R1004W
18.568.0E-4Leblond2019 E
MEGF8     PN400371chr19:
42879810-42879810
GAexonicUnknownnonsynonymous SNVNM_001410
NM_001271938
c.G7220A
c.G7421A
p.R2407H
p.R2474H
28.80.005Leblond2019 E
MEGF8     11798.p1chr19:
42867226-42867226
CGexonicDe novononsynonymous SNVNM_001410
NM_001271938
c.C5884G
c.C6085G
p.Q1962E
p.Q2029E
7.187-Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
MEGF8     1-0435-003chr19:
42880307-42880307
CTexonicDe novononsynonymous SNVNM_001410
NM_001271938
c.C7717T
c.C7918T
p.R2573W
p.R2640W
21.0-Yuen2017 G
MEGF8     SSC03538chr19:
42867226-42867226
CGexonicDe novononsynonymous SNVNM_001410
NM_001271938
c.C5884G
c.C6085G
p.Q1962E
p.Q2029E
7.187-Lim2017 E
MEGF8     5C460chr19:
42855869-42855869
CTexonicDe novosynonymous SNVNM_001410
NM_001271938
c.C2856T
c.C3057T
p.H952H
p.H1019H
-4.0E-4Satterstrom2020 E
MEGF8     HI0085chr19:
42841016-42841016
GAexonicDe novosynonymous SNVNM_001271938
NM_001410
c.G1302A
c.G1302A
p.T434T
p.T434T
--Satterstrom2020 E
MEGF8     111309chr19:
42857121-42857121
CTexonicnonsynonymous SNVNM_001410
NM_001271938
c.C3191T
c.C3392T
p.P1064L
p.P1131L
21.91.852E-5Woodbury-Smith2022 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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