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Results for "GRM5"

Variant Events: 36

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
GRM5     AU4186302chr11:
88452831-88452836
ATAATTATAATTAATTintronicDe novo--Yuen2017 G
GRM5     1-0559-003chr11:
88418398-88418398
CTintronicDe novo--Yuen2017 G
GRM5     AU3605303chr11:
88424226-88424226
CTintronicDe novo--Yuen2017 G
GRM5     AU1725302chr11:
88769473-88769473
ACintronicDe novo--Yuen2017 G
GRM5     1-0985-003chr11:
88604073-88604089
AAATAATAATAATAATAAAATAATAATAATAintronicDe novo--Yuen2017 G
GRM5     1-0215-006chr11:
88484546-88484546
AGintronicDe novo--Yuen2017 G
GRM5     2-1290-004chr11:
88534080-88534080
GCintronicDe novo--Yuen2017 G
GRM5     2-1461-003chr11:
88904305-88904305
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
GRM5     AU3727302chr11:
88313914-88313914
CTintronicDe novo--Yuen2017 G
GRM5     AU3777301chr11:
88681104-88681104
GAintronicDe novo--Yuen2017 G
GRM5     2-1330-003chr11:
88536503-88536503
GTintronicDe novo--Yuen2017 G
GRM5     AU0636303chr11:
88620494-88620494
CTintronicDe novo--Yuen2017 G
GRM5     AU4423303chr11:
88815870-88815876
TCTACTATCTAintergenicDe novo--Yuen2017 G
GRM5     AU4263304chr11:
88370800-88370800
ACintronicDe novo--Yuen2017 G
GRM5     1-0447-003chr11:
88397378-88397378
AGintronicDe novo--Yuen2017 G
GRM5     2-1382-003chr11:
88415917-88415917
GAintronicDe novo--Yuen2017 G
GRM5     1-0296-004chr11:
88463098-88463098
CCAACATintronicDe novo--Yuen2017 G
GRM5     2-1138-003chr11:
88816695-88816695
GAintergenicDe novo--Yuen2017 G
GRM5     1-0402-004chr11:
88348584-88348584
TAintronicDe novo--Yuen2017 G
GRM5     3-0469-000chr11:
88661267-88661267
GCintronicDe novo--Yuen2017 G
GRM5     1-0488-003chr11:
88730427-88730427
GAintronicDe novo--Yuen2017 G
GRM5     AU0780301chr11:
88542268-88542268
AGintronicDe novo--Yuen2017 G
GRM5     1-0269-005chr11:
88403022-88403022
CTintronicDe novo--Yuen2017 G
GRM5     1-0277-003chr11:
88272650-88272650
TCintronicDe novo--Yuen2017 G
GRM5     7-0095-004chr11:
88290919-88290919
CCTTTintronicDe novo--Yuen2017 G
GRM5     12529.p1 Complex Event; expand row to view variants  De novononframeshift deletionNM_001143831
NM_000842
NM_001143831
NM_000842
c.2036_2038del
c.2036_2038del
c.2035_2037del
c.2035_2037del
p.679_680del
p.679_680del
p.679_679del
p.679_679del
--Dong2014 E
Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Turner2016 G
GRM5     2-1522-003chr11:
88592036-88592036
GCintronicDe novo--Yuen2017 G
GRM5     A31chr11:
88522897-88522897
CTintronicDe novo--Wu2018 G
GRM5     1-0440-003chr11:
88456241-88456241
CGintronicDe novo--Yuen2017 G
GRM5     2-1522-003chr11:
88492727-88492727
GAintronicDe novo--Yuen2017 G
GRM5     1-0546-003chr11:
88719561-88719561
TCintronicDe novo--Yuen2017 G
GRM5     5-0064-003chr11:
88522183-88522183
GAintronicDe novo--Yuen2017 G
GRM5     AU3891302chr11:
88301208-88301211
TGGGTGGintronicDe novo--Yuen2017 G
GRM5     3-0482-000chr11:
88526603-88526603
GAintronicDe novo--Yuen2017 G
GRM5     5-0103-003chr11:
88894423-88894431
TTTTATTTATTTTAintergenicDe novo--Yuen2017 G
GRM5     12407.p1chr11:
88653180-88653180
CTintronicUnknown--Werling2018 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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