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Results for "RASA3"

Variant Events: 40

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
RASA3     1-0193-003chr13:
114899667-114899675
TACACACACTACACACintergenicDe novo--Yuen2017 G
RASA3     SP0027340chr13:
114751036-114751036
TAintronicDe novo--Fu2022 E
RASA3     SP0009312chr13:
114776671-114776671
GAexonicDe novosynonymous SNVNM_007368c.C1566Tp.L522L-8.76E-5Fu2022 E
Trost2022 G
Zhou2022 GE
RASA3     SMHC00924s000chr13:
114783587-114783587
GAexonicDe novononsynonymous SNVNM_007368c.C1084Tp.R362W13.26-Yuan2023 E
RASA3     2-1441-003chr13:
114754258-114754258
CTintronicDe novo--Yuen2016 G
RASA3     SP0014319chr13:
114751057-114751057
TCintronicDe novo-1.669E-5Fu2022 E
Trost2022 G
RASA3     3025_18AUchr13:
114783559-114783559
CTintronicDe novo-1.0E-4Fu2022 E
RASA3     2-1138-003chr13:
114826106-114826106
GAintronicDe novo--Trost2022 G
Yuen2017 G
RASA3     13623.p1chr13:
114772978-114772978
GAintronicDe novo-1.044E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
RASA3     2-1486-003chr13:
114974100-114974100
GAintergenicDe novo--Yuen2017 G
RASA3     1-0665-003chr13:
114767218-114767219
CATGintronicDe novo--Trost2022 G
RASA3     5-0055-003chr13:
114767218-114767219
CATGintronicDe novo--Trost2022 G
RASA3     1-0296-004chr13:
114991880-114991880
CCTCTGGGTATCAACTintergenicDe novo--Yuen2017 G
RASA3     3-0007-000chr13:
114766828-114766828
CTintronicDe novo--Trost2022 G
RASA3     3-0007-000chr13:
114766854-114766854
GAintronicDe novo--Trost2022 G
RASA3     1-0541-003chr13:
114991880-114991880
CCTCTGGGTATCAACTintergenicDe novo--Yuen2017 G
RASA3     SP0087254chr13:
114751056-114751056
GAintronicDe novo-5.0E-4Trost2022 G
RASA3     3-0430-000chr13:
114824836-114824836
TAintronicDe novo--Yuen2016 G
RASA3     3-0007-000chr13:
114766826-114766826
GAintronicDe novo--Trost2022 G
RASA3     1-0756-004chr13:
114938991-114938991
CTintergenicDe novo--Yuen2017 G
RASA3     MT_182.3chr13:
114818502-114818502
GAintronicDe novo--Trost2022 G
RASA3     SJD_68.3chr13:
114818502-114818502
GAintronicDe novo--Trost2022 G
RASA3     1-0531-003chr13:
114799565-114799565
GCintronicDe novo--Trost2022 G
RASA3     3-0169-000chr13:
114834052-114834052
CTintronicDe novo--Trost2022 G
Yuen2016 G
RASA3     SP0056920chr13:
114765099-114765107
CTGCCAGGACexonicframeshift deletionNM_007368c.1886_1893delp.I629fs--Zhou2022 GE
RASA3     3-0309-000chr13:
114811848-114811848
ATintronicDe novo--Trost2022 G
RASA3     1-0665-003chr13:
114767228-114767231
TACTCGCAAintronicDe novo--Trost2022 G
RASA3     1-0007-003chr13:
114785220-114785220
CTintronicDe novo--Trost2022 G
RASA3     1-0665-003chr13:
114767223-114767225
GCCACTintronicDe novo--Trost2022 G
RASA3     5-0055-003chr13:
114767228-114767231
TACTCGCAAintronicDe novo--Trost2022 G
RASA3     AU0638302chr13:
114911036-114911036
GCintergenicDe novo--Yuen2017 G
RASA3     2-1349-003chr13:
114886516-114886516
GTintronicDe novo--Trost2022 G
RASA3     REACH000202chr13:
114880150-114880150
CAintronicDe novo--Trost2022 G
RASA3     MSSNG00356-004chr13:
114882395-114882395
GAintronicDe novo--Trost2022 G
RASA3     3-0489-000chr13:
114854663-114854663
GAintronicDe novo--Trost2022 G
RASA3     1-0304-003chr13:
114816593-114816593
CTintronicDe novo--Trost2022 G
Yuen2017 G
RASA3     7-0423-003chr13:
114858809-114858809
CTintronicDe novo--Trost2022 G
RASA3     SP0004892chr13:
114843467-114843467
GAintronicDe novo--Trost2022 G
RASA3     1-0019-004chr13:
114991880-114991880
CCTCTGGGTATCAACTintergenicDe novo--Yuen2017 G
RASA3     SP0108664chr13:
114843467-114843467
GAintronicDe novo--Trost2022 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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