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Results for "RERE"

Variant Events: 70

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     SP0031271chr1:
8418972-8418972
GAexonicDe novononsynonymous SNVNM_001042682
NM_001042681
NM_012102
c.C1961T
c.C3623T
c.C3623T
p.A654V
p.A1208V
p.A1208V
12.235.52E-5Fu2022 E
Trost2022 G
Zhou2022 GE
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     SP0088794chr1:
8674829-8674829
TGintronicDe novo--Fu2022 E
RERE     TAS_F5060Ychr1:
8420088-8420088
CAintronicDe novo--Satterstrom2020 E
Trost2022 G
RERE     mAGRE5377chr1:
8420839-8420839
GAexonicDe novostopgainNM_001042682
NM_001042681
NM_012102
c.C1066T
c.C2728T
c.C2728T
p.Q356X
p.Q910X
p.Q910X
37.0-Cirnigliaro2023 G
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
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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--Trost2022 G
Yuen2017 G
RERE     2-0303-004chr1:
8644667-8644667
TCintronicDe novo--Yuen2017 G
RERE     2-1299-003chr1:
8500436-8500436
GAintronicDe novo--Trost2022 G
Yuen2017 G
RERE     2-1696-003chr1:
8898375-8898375
TCintergenicDe novo--Yuen2017 G
RERE     EL002_201chr1:
8418724-8418724
CTexonicDe novononsynonymous SNVNM_001042682
NM_001042681
NM_012102
c.G2209A
c.G3871A
c.G3871A
p.G737S
p.G1291S
p.G1291S
31.0-Fu2022 E
RERE     2-1475-003chr1:
8595088-8595088
GCintronicDe novo--Trost2022 G
Yuen2017 G
RERE     SP0034975chr1:
8716308-8716308
GAexonicDe novostopgainNM_001042681
NM_012102
c.C49T
c.C49T
p.R17X
p.R17X
41.0-Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
RERE     5-0077-003chr1:
8617308-8617308
CTintronicDe novo--Trost2022 G
Yuen2017 G
RERE     2-1689-003chr1:
8651606-8651606
CTintronicDe novo--Trost2022 G
Yuen2017 G
RERE     5-5170-003chr1:
8425419-8425419
GCintronicDe novo--Trost2022 G
RERE     11440.p1chr1:
8424902-8424902
GTintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
RERE     SP0159611chr1:
8421011-8421011
GAexonicDe novosynonymous SNVNM_001042682
NM_001042681
NM_012102
c.C894T
c.C2556T
c.C2556T
p.P298P
p.P852P
p.P852P
--Trost2022 G
RERE     7-0077-003chr1:
8616690-8616690
AGintronicDe novo--Trost2022 G
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     1-1018-003chr1:
8528871-8528871
GAintronicDe novo--Trost2022 G
RERE     SJD_46.3chr1:
8522347-8522347
TCintronicDe novo--Trost2022 G
RERE     1-0985-003chr1:
8574408-8574408
GAintronicDe novo--Trost2022 G
Yuen2017 G
RERE     SSC02495chr1:
8424902-8424902
GTintronicDe novo--Fu2022 E
Trost2022 G
RERE     REACH000233chr1:
8576333-8576333
CAintronicDe novo--Trost2022 G
RERE     7-0367-003chr1:
8549449-8549449
ATintronicDe novo--Trost2022 G
RERE     2-1359-005chr1:
8443834-8443834
GAintronicDe novo--Trost2022 G
RERE     1-0633-003chr1:
8435629-8435629
CTintronicDe novo--Trost2022 G
RERE     SJD_49.3chr1:
8499303-8499309
TCAAAAGTintronicDe novo--Trost2022 G
RERE     3-0640-000chr1:
8473815-8473815
TCintronicDe novo--Trost2022 G
RERE     AC02-1141-01chr1:
8418233-8418233
ACintronicDe novo-4.0E-4Satterstrom2020 E
Trost2022 G
RERE     REACH000214chr1:
8634538-8634538
GCintronicDe novo--Trost2022 G
RERE     SJD_54.3chr1:
8611194-8611194
CTintronicDe novo--Trost2022 G
RERE     2-0725-003chr1:
8672806-8672806
ACintronicDe novo--Trost2022 G
RERE     MT_186.4chr1:
8647166-8647166
ATintronicDe novo--Trost2022 G
RERE     REACH000233chr1:
8576339-8576339
CAintronicDe novo--Trost2022 G
RERE     REACH000233chr1:
8576337-8576337
CAintronicDe novo--Trost2022 G
RERE     MSSNG00064-003chr1:
8593614-8593614
CTintronicDe novo--Trost2022 G
RERE     5-5065-003chr1:
8591158-8591158
AGintronicDe novo--Trost2022 G
RERE     11572.p1 Complex Event; expand row to view variants  De novo--Turner2016 G
Turner2016 G
Turner2016 G
RERE     SP0111569chr1:
8674833-8674833
TGintronicDe novo--Trost2022 G
RERE     11194.p1chr1:
8877668-8877668
TCUTR5De novo--Turner2016 G
RERE     SP0081766chr1:
8674833-8674833
TGintronicDe novo--Trost2022 G
RERE     1-0649-003chr1:
8703588-8703588
CAintronicDe novo--Trost2022 G
RERE     AU2287301chr1:
8687798-8687798
TAintronicDe novo--Trost2022 G
RERE     AU2140305chr1:
8686887-8686887
CTintronicDe novo--Trost2022 G
Yuen2017 G
RERE     SP0111569chr1:
8674831-8674831
TGintronicDe novo--Trost2022 G
RERE     SP0081766chr1:
8674831-8674831
TGintronicDe novo--Trost2022 G
RERE     SP0050804chr1:
8674833-8674833
TGintronicDe novo--Trost2022 G
RERE     SP0147962chr1:
8674831-8674831
TGintronicDe novo--Trost2022 G
RERE     2-0036-003chr1:
8773728-8773728
GAintronicDe novo--Yuen2016 G
RERE     1-1155-003chr1:
8846506-8846506
TCintronicDe novo--Trost2022 G
RERE     MSSNG00087-003chr1:
8832804-8832805
CTCintronicDe novo--Trost2022 G
RERE     4-0088-003chr1:
8796561-8796561
CTintronicDe novo--Trost2022 G
RERE     1-0362-003chr1:
8753934-8753934
TCintronicDe novo--Trost2022 G
RERE     1-1100-003chr1:
8808605-8808605
GCintronicDe novo--Trost2022 G
RERE     1-1100-003chr1:
8808524-8808524
CTintronicDe novo--Trost2022 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
Lowther2023 G
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
RERE     2-1176-003chr1:
8637805-8637805
TCintronicDe novo--Yuen2017 G
RERE     2-1398-004chr1:
8614630-8614630
CTintronicDe novo--Trost2022 G
Yuen2017 G
RERE     1-0551-004chr1:
8721205-8721205
TCintronicDe novo--Trost2022 G
Yuen2017 G
RERE     1-0683-004chr1:
8777135-8777135
TCintronicDe novo--Trost2022 G
Yuen2017 G
RERE     AU4264302chr1:
8746002-8746002
GAintronicDe novo--Trost2022 G
Yuen2017 G
RERE     SSC04312chr1:
8421289-8421289
GAexonicDe novostopgainNM_001042682
NM_001042681
NM_012102
c.C616T
c.C2278T
c.C2278T
p.Q206X
p.Q760X
p.Q760X
39.0-Antaki2022 GE
Trost2022 G
RERE     SP0023860chr1:
8420317-8420318
ACAexonicDe novoframeshift deletionNM_001042682
NM_001042681
NM_012102
c.1587delG
c.3249delG
c.3249delG
p.G529fs
p.G1083fs
p.G1083fs
-1.0E-4Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
RERE     AU2793301chr1:
8516202-8516202
CGintronicDe novo--Trost2022 G
Yuen2017 G
RERE     1-0464-003chr1:
8596034-8596034
GAintronicDe novo--Trost2022 G
Yuen2017 G
RERE     1-0495-003chr1:
8885173-8885173
AGintergenicDe novo--Yuen2017 G
RERE     AU4215302chr1:
8717224-8717224
TCintronicDe novo--Trost2022 G
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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