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Results for "MEMO1"

Variant Events: 9

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
MEMO1   SSC08980chr2:
32168370-32168370
CTsplicingDe novosplicing15.93-Lim2017 E
MEMO1   AU2140306chr2:
32095108-32095108
CTintronicDe novo--Yuen2017 G
MEMO1   AU2437302chr2:
32102141-32102142
TCTCCintronicDe novo--Yuen2017 G
MEMO1   AU3730301chr2:
32203812-32203812
GAintronicDe novo--Yuen2017 G
MEMO1   2-1415-004chr2:
32239272-32239272
CTintergenicDe novo--Yuen2017 G
MEMO1   AU2410301chr2:
32197846-32197846
CAintronicDe novo--Yuen2017 G
MEMO1   2-0088-003chr2:
32203301-32203301
CCAintronicDe novo--Yuen2017 G
MEMO1   13630.p1chr2:
32168370-32168370
CTsplicingDe novosplicing15.93-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
MEMO1   AU069603chr2:
32231475-32231475
ATintronicDe 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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