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Results for "RAB31"

Variant Events: 22

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
RAB31     AU4054302chr18:
9676646-9676646
AGintergenicDe novo--Yuen2017 G
RAB31     1-0530-003chr18:
9627987-9627987
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
RAB31     2-1300-003chr18:
9668966-9668966
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
RAB31     AU1542303chr18:
9841204-9841204
CGintronicDe novo--Yuen2017 G
RAB31     111309chr18:
9814045-9814045
GAexonicnonsynonymous SNVNM_006868c.G230Ap.R77Q35.0-Woodbury-Smith2022 E
RAB31     2-1514-003chr18:
9830417-9830417
CAintronicDe novo--Yuen2017 G
RAB31     63-449chr18:
9795027-9795027
GAintronicDe novo--Michaelson2012 G
RAB31     60-2027chr18:
9822606-9822606
CTintronicDe novo--Michaelson2012 G
RAB31     1-0661-003chr18:
9764411-9764411
CTintronicDe novo--Yuen2017 G
RAB31     AU3343301chr18:
9838544-9838544
AGintronicDe novo--Yuen2017 G
RAB31     1-0269-003chr18:
9808493-9808493
GAintronicDe novo--Yuen2017 G
RAB31     2-0158-003chr18:
9878841-9878841
GAintergenicDe novo--Yuen2017 G
RAB31     A14chr18:
9706992-9706992
AGintergenicDe novo--Wu2018 G
RAB31     7-0008-003chr18:
9828482-9828482
TGintronicDe novo--Yuen2017 G
RAB31     AU079605chr18:
9872547-9872547
AGintergenicDe novo--Yuen2017 G
RAB31     7-0248-003chr18:
9661635-9661635
TGintergenicDe novo--Yuen2017 G
RAB31     AU038204chr18:
9738877-9738877
GTintronicDe novo--Yuen2017 G
RAB31     AU4032306chr18:
9822225-9822225
GAintronicDe novo--Yuen2017 G
RAB31     14663.p1chr18:
9815108-9815108
TCintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
RAB31     2-0296-004chr18:
9751712-9751712
CAintronicDe novo--Yuen2017 G
RAB31     1-0495-003chr18:
9723390-9723390
TCintronicDe novo--Yuen2017 G
RAB31     A15chr18:
9836728-9836728
GAintronicDe novo--Wu2018 G
Source Variant Information

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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
Curation notesView
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