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Results for "GRM6"

Variant Events: 11

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
GRM6     iHART2468chr5:
178413861-178413861
CTexonicPaternalstopgainNM_000843c.G1478Ap.W493X39.08.313E-6Ruzzo2019 G
GRM6     iHART2466chr5:
178413861-178413861
CTexonicPaternalstopgainNM_000843c.G1478Ap.W493X39.08.313E-6Ruzzo2019 G
GRM6     iHART3095chr5:
178418554-178418554
AACexonicMaternalframeshift insertionNM_000843c.727dupGp.V243fs-8.247E-5Ruzzo2019 G
GRM6     iHART3094chr5:
178418554-178418554
AACexonicMaternalframeshift insertionNM_000843c.727dupGp.V243fs-8.247E-5Ruzzo2019 G
GRM6     G01-GEA-90-HIchr5:
178418713-178418713
GAintronicDe novo-5.126E-5Satterstrom2020 E
GRM6     Cukier2014:37037chr5:
178413163-178413163
GCexonicUnknownnonsynonymous SNVNM_000843c.C2092Gp.L698V11.330.0049Cukier2014 E
GRM6     iHART2467chr5:
178413861-178413861
CTexonicPaternalstopgainNM_000843c.G1478Ap.W493X39.08.313E-6Ruzzo2019 G
GRM6     ASC_CA_165_Achr5:
178413450-178413450
GAexonicDe novononsynonymous SNVNM_000843c.C1805Tp.T602M11.816.0E-4Satterstrom2020 E
GRM6     11869.p1chr5:
178416344-178416344
CTexonicDe novononsynonymous SNVNM_000843c.G1075Ap.E359K29.22.471E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
GRM6     08C78430chr5:
178414000-178414000
GAintronicDe novo-2.939E-5Satterstrom2020 E
GRM6     iHART3096chr5:
178418554-178418554
AACexonicMaternalframeshift insertionNM_000843c.727dupGp.V243fs-8.247E-5Ruzzo2019 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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