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Results for "RARA"

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
RARA     14108_p1chr17:
38511626-38511626
CTexonicDe novononsynonymous SNVNM_001145302
NM_001024809
NM_000964
NM_001145301
c.C833T
c.C1109T
c.C1124T
c.C1124T
p.P278L
p.P370L
p.P375L
p.P375L
35.0-Fu2022 E
RARA     MSSNG00045-005chr17:
38467468-38467468
CAintronicDe novo--Trost2022 G
RARA     14108.p1chr17:
38511626-38511626
CTexonicDe novononsynonymous SNVNM_001145302
NM_001024809
NM_000964
NM_001145301
c.C833T
c.C1109T
c.C1124T
c.C1124T
p.P278L
p.P370L
p.P375L
p.P375L
35.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Turner2017 G
Wilfert2021 G
Zhou2022 GE
RARA     ASC_11164-1chr17:
38512356-38512356
CGexonicDe novononsynonymous SNVNM_001145302
NM_001024809
NM_000964
NM_001145301
c.C976G
c.C1252G
c.C1267G
c.C1267G
p.L326V
p.L418V
p.L423V
p.L423V
11.12-Fu2022 E
RARA     1-0067-005chr17:
38485005-38485006
TCTintronicDe novo--Trost2022 G
Yuen2017 G
RARA     mAGRE5320chr17:
38512346-38512346
CCCTGGexonicPaternalframeshift insertionNM_001145302
NM_001024809
NM_000964
NM_001145301
c.966_967insCTGG
c.1242_1243insCTGG
c.1257_1258insCTGG
c.1257_1258insCTGG
p.G322fs
p.G414fs
p.G419fs
p.G419fs
--Cirnigliaro2023 G
RARA     200701695@0159773112chr17:
38512927-38512927
CGUTR3De novo17.28-Satterstrom2020 E
Trost2022 G
RARA     SSC10749chr17:
38511626-38511626
CTexonicnonsynonymous SNVNM_001145302
NM_001024809
NM_000964
NM_001145301
c.C833T
c.C1109T
c.C1124T
c.C1124T
p.P278L
p.P370L
p.P375L
p.P375L
35.0-Antaki2022 GE
RARA     AU073005chr17:
38504619-38504619
CTexonicDe novononsynonymous SNVNM_001024809
NM_000964
NM_001145301
c.C215T
c.C230T
c.C230T
p.S72L
p.S77L
p.S77L
21.6-Trost2022 G
Yuen2017 G
Zhou2022 GE
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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