Variant Results

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Results for "ADGRG4"

Variant Events: 13

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

ADGRG4

AU3398301

chrX:
135459346-135459356

TTTTTGTTGTT

TTT

intronic

De novo

-

-

Yuen2017 G

ADGRG4

MT_28

chrX:
135431930-135431930

C

A

exonic

Maternal

nonsynonymous SNV

NM_153834

c.C6065A

p.T2022N

17.26

-

Toma2013 E

ADGRG4

2-1497-003

chrX:
135533203-135533210

CATATATA

CATATA

intergenic

De novo

-

-

Yuen2017 G

ADGRG4

11028.p1

chrX:
135429308-135429308

C

T

exonic

De novo

nonsynonymous SNV

NM_153834

c.C3443T

p.P1148L

9.085

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

ADGRG4

1-0656-003

chrX:
135391215-135391215

C

T

intronic

De novo

-

-

Yuen2017 G

ADGRG4

A19

chrX:
135494500-135494501

GT

G

exonic

De novo

frameshift deletion

NM_153834

c.9013delT

p.W3005fs

-

Wu2018 G

ADGRG4

SP0022770

chrX:
135431671-135431671

G

A

exonic

De novo

nonsynonymous SNV

NM_153834

c.G5806A

p.A1936T

2.532

-

Feliciano2019 E

ADGRG4

AU3951301

chrX:
135459346-135459356

TTTTTGTTGTT

TTT

intronic

De novo

-

-

Yuen2017 G

ADGRG4

AU3951302

chrX:
135459346-135459356

TTTTTGTTGTT

TTT

intronic

De novo

-

-

Yuen2017 G

ADGRG4

1-0972-003

chrX:
135555488-135555488

G

T

intergenic

De novo

-

-

Yuen2017 G

ADGRG4

AU2089301

chrX:
135414167-135414168

TA

T

intronic

De novo

-

-

Yuen2017 G

ADGRG4

AU3846303

chrX:
135495065-135495065

T

A

intronic

De novo

-

-

Yuen2017 G

ADGRG4

2-1346-003

chrX:
135533306-135533306

A

G

intergenic

De novo

-

-

Yuen2017 G

Source Variant Information

, -

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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