Variant Results

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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

iHART2468

chr5:
178413861-178413861

C

T

exonic

Paternal

stopgain

NM_000843

c.G1478A

p.W493X

39.0

Ruzzo2019 G

GRM6

iHART2466

chr5:
178413861-178413861

C

T

exonic

Paternal

stopgain

NM_000843

c.G1478A

p.W493X

39.0

Ruzzo2019 G

GRM6

iHART3095

chr5:
178418554-178418554

A

AC

exonic

Maternal

frameshift insertion

NM_000843

c.727dupG

p.V243fs

-

Ruzzo2019 G

GRM6

iHART3094

chr5:
178418554-178418554

A

AC

exonic

Maternal

frameshift insertion

NM_000843

c.727dupG

p.V243fs

-

Ruzzo2019 G

GRM6

G01-GEA-90-HI

chr5:
178418713-178418713

G

A

intronic

De novo

-

Satterstrom2020 E

GRM6

Cukier2014:37037

chr5:
178413163-178413163

G

C

exonic

Unknown

nonsynonymous SNV

NM_000843

c.C2092G

p.L698V

11.33

Cukier2014 E

GRM6

iHART2467

chr5:
178413861-178413861

C

T

exonic

Paternal

stopgain

NM_000843

c.G1478A

p.W493X

39.0

Ruzzo2019 G

GRM6

ASC_CA_165_A

chr5:
178413450-178413450

G

A

exonic

De novo

nonsynonymous SNV

NM_000843

c.C1805T

p.T602M

11.81

Satterstrom2020 E

GRM6

11869.p1

chr5:
178416344-178416344

C

T

exonic

De novo

nonsynonymous SNV

NM_000843

c.G1075A

p.E359K

29.2

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

GRM6

08C78430

chr5:
178414000-178414000

G

A

intronic

De novo

-

Satterstrom2020 E

GRM6

iHART3096

chr5:
178418554-178418554

A

AC

exonic

Maternal

frameshift insertion

NM_000843

c.727dupG

p.V243fs

-

Ruzzo2019 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
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