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Results for "REPIN1"

Variant Events: 4

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
REPIN1     1-0918-003chr7:
150069491-150069491
GAexonicDe novosynonymous SNVNM_014374
NM_001099696
NM_001099695
NM_013400
c.G1161A
c.G1161A
c.G1332A
c.G1161A
p.E387E
p.E387E
p.E444E
p.E387E
--Yuen2017 G
REPIN1     11003.p1chr7:
150068814-150068814
GAexonicMosaic, De novononsynonymous SNVNM_014374
NM_001099696
NM_001099695
NM_013400
c.G484A
c.G484A
c.G655A
c.G484A
p.A162T
p.A162T
p.A219T
p.A162T
15.53-Dou2017 E
Ji2016 E
Krumm2015 E
Lim2017 E
Satterstrom2020 E
REPIN1     NDAR_INVEB022VLQ_wes1chr7:
150068799-150068799
CTexonicDe novostopgainNM_014374
NM_001099696
NM_001099695
NM_013400
c.C469T
c.C469T
c.C640T
c.C469T
p.R157X
p.R157X
p.R214X
p.R157X
21.5-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
REPIN1     iHART1848chr7:
150066837-150066838
CTCexonicMaternalframeshift deletionNM_001099695c.38delTp.L13fs--Ruzzo2019 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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