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Results for "REEP3"

Variant Events: 83

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
REEP3     2-1426-003chr10:
65586400-65586400
TAintergenicDe novo--Yuen2017 G
REEP3     AU3782303chr10:
65462200-65462200
GAintergenicDe novo--Yuen2017 G
REEP3     AU2951302chr10:
65456968-65456968
TCintergenicDe novo--Yuen2017 G
REEP3     A20chr10:
65925959-65925962
TAAATintergenicDe novo--Wu2018 G
REEP3     7-0068-003chr10:
66234174-66234174
GCintergenicDe novo--Yuen2017 G
REEP3     1-0395-004chr10:
65287333-65287333
GAintronicDe novo--Yuen2017 G
REEP3     2-1508-003chr10:
65335864-65335864
AGintronicDe novo--Yuen2017 G
REEP3     AU4235303chr10:
65472955-65472955
TCintergenicDe novo--Yuen2017 G
REEP3     2-1430-003chr10:
66481023-66481023
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
REEP3     AU4176302chr10:
65612788-65612788
GAintergenicDe novo--Yuen2017 G
REEP3     AU3725302chr10:
65629731-65629731
ATintergenicDe novo--Yuen2017 G
REEP3     A31chr10:
66321827-66321827
ATintergenicDe novo--Wu2018 G
REEP3     AU047904chr10:
65336054-65336054
GTintronicDe novo--Yuen2017 G
REEP3     1-0041-003chr10:
66269782-66269782
TAintergenicDe novo--Yuen2017 G
REEP3     AU3764302chr10:
66438659-66438659
GAintergenicDe novo--Yuen2017 G
REEP3     1-0169-004chr10:
66537821-66537821
ATintergenicDe novo--Yuen2017 G
REEP3     AU050403chr10:
65251468-65251468
AGintergenicDe novo--Yuen2017 G
REEP3     AU2035302chr10:
66070044-66070044
CTintergenicDe novo--Yuen2017 G
REEP3     1-0007-003chr10:
66033881-66033881
TCintergenicDe novo--Yuen2017 G
REEP3     A19chr10:
65625273-65625273
AGintergenicDe novo--Wu2018 G
REEP3     AU3857301chr10:
65375574-65375574
GAintronicDe novo--Yuen2017 G
REEP3     AU3124304chr10:
66279227-66279227
CGintergenicDe novo--Yuen2017 G
REEP3     2-1290-003chr10:
66009705-66009705
GTintergenicDe novo--Yuen2017 G
REEP3     AU3839302chr10:
65893846-65893846
GAintergenicDe novo--Yuen2017 G
REEP3     7-0223-003chr10:
65413420-65413420
GAintergenicDe novo--Yuen2017 G
REEP3     7-0254-004chr10:
66314364-66314364
TCintergenicDe novo--Yuen2017 G
REEP3     AU3124304chr10:
66279160-66279160
GAintergenicDe novo--Yuen2017 G
REEP3     2-1275-003chr10:
65913397-65913397
GTintergenicDe novo--Yuen2017 G
REEP3     AU056005chr10:
66287741-66287741
CTintergenicDe novo--Yuen2017 G
REEP3     AU3124304chr10:
66279206-66279206
CTintergenicDe novo--Yuen2017 G
REEP3     AU075207chr10:
66096660-66096660
AGintergenicDe novo--Yuen2017 G
REEP3     AU2035301chr10:
66070044-66070044
CTintergenicDe novo--Yuen2017 G
REEP3     AU075207chr10:
66269385-66269385
TCintergenicDe novo--Yuen2017 G
REEP3     AU3905302chr10:
65596194-65596194
CTintergenicDe novo--Yuen2017 G
REEP3     AU3874301chr10:
66546247-66546247
CTintergenicDe novo--Yuen2017 G
REEP3     AU4072303chr10:
66517955-66517955
ATintergenicDe novo--Yuen2017 G
REEP3     AU034904chr10:
65680405-65680405
ACintergenicDe novo--Yuen2017 G
REEP3     A17chr10:
65891833-65891833
CTintergenicDe novo--Wu2018 G
REEP3     A27chr10:
65925959-65925962
TAAATintergenicDe novo--Wu2018 G
REEP3     AU3721301chr10:
66338655-66338655
TCintergenicDe novo--Yuen2017 G
REEP3     2-0145-004chr10:
65561804-65561807
TAGATintergenicDe novo--Yuen2017 G
REEP3     1-0233-004chr10:
66239763-66239763
AGintergenicDe novo--Yuen2017 G
REEP3     5-0138-003chr10:
66089949-66089949
GTintergenicDe novo--Yuen2017 G
REEP3     AU059903chr10:
65592626-65592626
TCintergenicDe novo--Yuen2017 G
REEP3     2-1581-003chr10:
65400666-65400666
CTintergenicDe novo--Yuen2017 G
REEP3     AU4228301chr10:
65399641-65399641
GAintergenicDe novo--Yuen2017 G
REEP3     1-0638-003chr10:
65663600-65663621
AATTATTATTATTATTATTATTAATTATTATTATTATTATTintergenicDe novo--Yuen2017 G
REEP3     AU4029302chr10:
66194000-66194000
GAintergenicDe novo--Yuen2017 G
REEP3     AU1909304chr10:
66449504-66449504
GAintergenicDe novo--Yuen2017 G
REEP3     AU3913303chr10:
66164132-66164132
CTintergenicDe novo--Yuen2017 G
REEP3     2-1089-003chr10:
66395097-66395097
AGintergenicDe novo--Yuen2017 G
REEP3     2-1475-003chr10:
65702793-65702793
CTintergenicDe novo--Yuen2017 G
REEP3     AU2975302chr10:
66114045-66114045
GAintergenicDe novo--Yuen2017 G
REEP3     7-0059-003chr10:
66514742-66514742
CTintergenicDe novo--Yuen2017 G
REEP3     AU2100302chr10:
66116676-66116676
TCintergenicDe novo--Yuen2017 G
REEP3     AU2137304chr10:
65709570-65709570
CGintergenicDe novo--Yuen2017 G
REEP3     AU3646301chr10:
66557676-66557676
CTintergenicDe novo--Yuen2017 G
REEP3     7-0082-003chr10:
66423155-66423155
AGintergenicDe novo--Yuen2017 G
REEP3     7-0160-003chr10:
66532281-66532281
CGintergenicDe novo--Yuen2017 G
REEP3     1-0044-003chr10:
65856360-65856360
GTintergenicDe novo--Yuen2017 G
REEP3     1-0563-003chr10:
66142215-66142215
GAintergenicDe novo--Yuen2017 G
REEP3     2-1567-003chr10:
65314777-65314777
TAintronicDe novo--Yuen2017 G
REEP3     A11chr10:
65925959-65925962
TAAATintergenicDe novo--Wu2018 G
REEP3     AU1940304chr10:
65552721-65552721
TCintergenicDe novo--Yuen2017 G
REEP3     AU2975301chr10:
66114045-66114045
GAintergenicDe novo--Yuen2017 G
REEP3     7-0166-003chr10:
66408550-66408550
ACintergenicDe novo--Yuen2017 G
REEP3     1-0381-003chr10:
65494050-65494050
TGintergenicDe novo--Yuen2017 G
REEP3     1-0203-003chr10:
65247965-65247965
TGintergenicDe novo--Yuen2017 G
REEP3     AU4067301chr10:
65355408-65355408
CTintronicDe novo--Yuen2017 G
REEP3     2-1094-004chr10:
65465999-65465999
TTTGAGCAintergenicDe novo--Yuen2017 G
REEP3     AU017704chr10:
65866419-65866419
ATintergenicDe novo--Yuen2017 G
REEP3     1-0203-003chr10:
65248156-65248156
GCintergenicDe novo--Yuen2017 G
REEP3     3-0434-000chr10:
66377696-66377696
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
REEP3     1-0433-003chr10:
66066808-66066808
CTintergenicDe novo--Yuen2017 G
REEP3     AU2951303chr10:
65456968-65456968
TCintergenicDe novo--Yuen2017 G
REEP3     3-0307-000chr10:
66382176-66382176
ACintergenicDe novo--Yuen2017 G
REEP3     1-0104-004chr10:
66493404-66493404
GGAintergenicDe novo--Yuen2017 G
REEP3     AU3761301chr10:
65608527-65608527
CTintergenicDe novo--Yuen2017 G
REEP3     2-1738-003chr10:
65729659-65729659
CTintergenicDe novo--Yuen2017 G
REEP3     AU3761301chr10:
66114720-66114720
CTintergenicDe novo--Yuen2017 G
REEP3     A16chr10:
66531238-66531238
TCintergenicDe novo--Wu2018 G
REEP3     2-0090-003chr10:
65628882-65628882
AGintergenicDe novo--Yuen2017 G
REEP3     2-1184-003chr10:
66219349-66219349
GAintergenicDe 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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