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Results for "RAP1GAP2"

Variant Events: 21

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
RAP1GAP2     1-0049-004chr17:
2865475-2865475
CTintronicDe novo--Yuen2017 G
RAP1GAP2     AU3397302chr17:
2911052-2911052
GCintronicDe novo--Yuen2017 G
RAP1GAP2     1-0139-005chr17:
2938359-2938359
CTUTR3De novo--Yuen2017 G
RAP1GAP2     AU034904chr17:
2799016-2799016
GAintronicDe novo--Yuen2017 G
RAP1GAP2     3C024chr17:
2930214-2930214
CTintronicDe novo--Satterstrom2020 E
RAP1GAP2     1-0161-004chr17:
2721188-2721188
GGTintronicDe novo--Yuen2017 G
RAP1GAP2     1-0175-003chr17:
2782148-2782148
CTintronicDe novo--Yuen2017 G
RAP1GAP2     09C100462chr17:
2901580-2901580
GAexonicDe novosynonymous SNVNM_001100398
NM_015085
c.G1065A
c.G1110A
p.P355P
p.P370P
-2.484E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
RAP1GAP2     AU017304chr17:
2961422-2961431
ATCTTCTTCTATCTTCTintergenicDe novo--Yuen2017 G
RAP1GAP2     2-1518-003chr17:
2717061-2717061
CTintronicDe novo--Yuen2017 G
RAP1GAP2     2-1379-003chr17:
2819527-2819527
TGintronicDe novo--Yuen2016 G
Yuen2017 G
RAP1GAP2     7-0191-003chr17:
2736798-2736798
CAintronicDe novo--Yuen2017 G
RAP1GAP2     AU3052303chr17:
2801797-2801797
CTintronicDe novo--Yuen2017 G
RAP1GAP2     AU3801301chr17:
2850659-2850659
GTintronicDe novo--Yuen2017 G
RAP1GAP2     2-1152-003chr17:
2811161-2811161
CTintronicDe novo--Yuen2016 G
Yuen2017 G
RAP1GAP2     AU036203chr17:
2757487-2757487
CGintronicDe novo--Yuen2017 G
RAP1GAP2     1-0473-003chr17:
2901315-2901315
GAintronicDe novo--Yuen2017 G
RAP1GAP2     2-1205-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
RAP1GAP2     AU3782303chr17:
2813973-2813973
CTintronicDe novo--Yuen2017 G
RAP1GAP2     2-1174-005Bchr17:
2736811-2736811
CTintronicDe novo--Yuen2017 G
RAP1GAP2     AU3997302chr17:
2809703-2809703
AGintronicDe novo--Yuen2017 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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