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Results for "RPIA"

Variant Events: 17

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
RPIA     2-0318-004chr2:
89001125-89001125
TTCTGAACintronicDe novo--Trost2022 G
Yuen2017 G
RPIA     1-0206-004chr2:
89002302-89002302
AGintronicDe novo--Trost2022 G
Yuen2017 G
RPIA     MSSNG00199-003chr2:
89045146-89045146
CAintronicDe novo--Trost2022 G
RPIA     7-0281-003chr2:
89050982-89050982
CGdownstreamDe novo--Trost2022 G
RPIA     AU4426303chr2:
89044250-89044250
GTintronicDe novo--Trost2022 G
Yuen2017 G
RPIA     1-0565-003chr2:
89001131-89001131
GGTTTTTAAintronicDe novo--Trost2022 G
Yuen2017 G
RPIA     5-0003-003chr2:
89039721-89039721
CTintronicDe novo--Trost2022 G
Yuen2017 G
RPIA     2-0182-003chr2:
89001131-89001131
GGTTTTTAAintronicDe novo--Yuen2017 G
RPIA     MT_151.3chr2:
89013751-89013751
CTintronicDe novo--Trost2022 G
RPIA     2-1818-003chr2:
89042108-89042108
CTintronicDe novo--Trost2022 G
RPIA     1-0534-006chr2:
89001155-89001158
TAGACATGCintronicDe novo--Trost2022 G
RPIA     REACH000387chr2:
89004238-89004238
CTintronicDe novo--Trost2022 G
RPIA     2-1398-003chr2:
89001122-89001125
CTTTGAACintronicDe novo--Trost2022 G
RPIA     Wang2023:783chr2:
89036128-89036128
GTexonicDe novononsynonymous SNVNM_144563c.G673Tp.V225L19.76-Wang2023 E
RPIA     1-0405-003chr2:
89001125-89001125
TTCTGAACintronicDe novo--Trost2022 G
RPIA     2-1153-003chr2:
89060128-89060128
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
RPIA     1-0405-003chr2:
89001119-89001122
GCTCAATTintronicDe 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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