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Results for "RERE"

Variant Events: 31

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
RERE     AC02-1141-01chr1:
8418233-8418233
ACintronicDe novo-4.0E-4Satterstrom2020 E
RERE     PN400393 Complex Event; expand row to view variants  Unknownframeshift deletionNM_001042682
NM_001042681
NM_012102
NM_001042682
NM_001042681
NM_012102
c.2274_2278del
c.3936_3940del
c.3936_3940del
c.2280_2289del
c.3942_3951del
c.3942_3951del
p.R758fs
p.R1312fs
p.R1312fs
p.I760fs
p.I1314fs
p.I1314fs
-2.0E-4Leblond2019 E
Leblond2019 E
RERE     11572.p1 Complex Event; expand row to view variants  De novo--Turner2016 G
Turner2016 G
Turner2016 G
RERE     11194.p1chr1:
8877668-8877668
TCUTR5De novo--Turner2016 G
RERE     AU2140305chr1:
8686887-8686887
CTintronicDe novo--Yuen2017 G
RERE     2-0036-003chr1:
8773728-8773728
GAintronicDe novo--Yuen2016 G
RERE     TAS_F5060Ychr1:
8420088-8420088
CAintronicDe novo--Satterstrom2020 E
RERE     AU113Achr1:
8418823-8418823
CTexonicDe novononsynonymous SNVNM_001042682
NM_001042681
NM_012102
c.G2110A
c.G3772A
c.G3772A
p.E704K
p.E1258K
p.E1258K
35.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
RERE     PN400488 Complex Event; expand row to view variants  Unknownframeshift deletionNM_001042682
NM_001042681
NM_012102
NM_001042682
NM_001042681
NM_012102
c.2274_2278del
c.3936_3940del
c.3936_3940del
c.2280_2289del
c.3942_3951del
c.3942_3951del
p.R758fs
p.R1312fs
p.R1312fs
p.I760fs
p.I1314fs
p.I1314fs
-2.0E-4Leblond2019 E
Leblond2019 E
RERE     2-0016-003chr1:
8773728-8773728
GAintronicDe novo--Yuen2017 G
RERE     11654.p1chr1:
8421289-8421289
GAexonicDe novostopgainNM_001042682
NM_001042681
NM_012102
c.C616T
c.C2278T
c.C2278T
p.Q206X
p.Q760X
p.Q760X
39.0-Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
RERE     2-0303-004chr1:
8644667-8644667
TCintronicDe novo--Yuen2017 G
RERE     2-1299-003chr1:
8500436-8500436
GAintronicDe novo--Yuen2017 G
RERE     2-1176-003chr1:
8637805-8637805
TCintronicDe novo--Yuen2017 G
RERE     2-1696-003chr1:
8898375-8898375
TCintergenicDe novo--Yuen2017 G
RERE     2-1475-003chr1:
8595088-8595088
GCintronicDe novo--Yuen2017 G
RERE     SP0034975chr1:
8716308-8716308
GAexonicDe novostopgainNM_001042681
NM_012102
c.C49T
c.C49T
p.R17X
p.R17X
41.0-Feliciano2019 E
RERE     2-1398-004chr1:
8614630-8614630
CTintronicDe novo--Yuen2017 G
RERE     5-0077-003chr1:
8617308-8617308
CTintronicDe novo--Yuen2017 G
RERE     1-0551-004chr1:
8721205-8721205
TCintronicDe novo--Yuen2017 G
RERE     1-0683-004chr1:
8777135-8777135
TCintronicDe novo--Yuen2017 G
RERE     AU4264302chr1:
8746002-8746002
GAintronicDe novo--Yuen2017 G
RERE     2-1689-003chr1:
8651606-8651606
CTintronicDe novo--Yuen2017 G
RERE     AU2793301chr1:
8516202-8516202
CGintronicDe novo--Yuen2017 G
RERE     1-0464-003chr1:
8596034-8596034
GAintronicDe novo--Yuen2017 G
RERE     1-0495-003chr1:
8885173-8885173
AGintergenicDe novo--Yuen2017 G
RERE     11440.p1chr1:
8424902-8424902
GTintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
RERE     7-0077-003chr1:
8616690-8616690
AGintronicDe novo--Yuen2017 G
RERE     PN400261 Complex Event; expand row to view variants  Unknownframeshift deletionNM_001042682
NM_001042681
NM_012102
NM_001042682
NM_001042681
NM_012102
c.2280_2289del
c.3942_3951del
c.3942_3951del
c.2274_2278del
c.3936_3940del
c.3936_3940del
p.I760fs
p.I1314fs
p.I1314fs
p.R758fs
p.R1312fs
p.R1312fs
-2.0E-4Leblond2019 E
Leblond2019 E
RERE     1-0985-003chr1:
8574408-8574408
GAintronicDe novo--Yuen2017 G
RERE     AU4215302chr1:
8717224-8717224
TCintronicDe novo--Yuen2017 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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