Variant Results

or

Results for "CD247"

Variant Events: 15

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

CD247

MSSNG00044-003

chr1:
167399902-167399902

T

G

UTR3

De novo

-

Trost2022 G

CD247

7-0148-003

chr1:
167466749-167466749

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CD247

4-0019-003

chr1:
167459263-167459263

T

C

intronic

De novo

-

Trost2022 G

CD247

REACH000582

chr1:
167430957-167430957

C

T

intronic

De novo

-

Trost2022 G

CD247

AU002406

chr1:
167399147-167399147

C

A

downstream

De novo

-

Trost2022 G
Yuen2017 G

CD247

AU4032306

chr1:
167460862-167460862

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CD247

mAGRE4584

chr1:
167404671-167404671

G

A

exonic

Paternal

stopgain

NM_198053

c.C301T

p.Q101X

18.21

2.0E-4

Cirnigliaro2023 G

CD247

A14

chr1:
167440046-167440046

T

G

intronic

De novo

-

Wu2018 G

CD247

1-0489-003

chr1:
167479828-167479828

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CD247

7-0344-003

chr1:
167471132-167471132

A

G

intronic

De novo

-

Trost2022 G

CD247

mAGRE2106

chr1:
167404671-167404671

G

A

exonic

Paternal

stopgain

NM_198053

c.C301T

p.Q101X

18.21

2.0E-4

Cirnigliaro2023 G

CD247

REACH000559

chr1:
167462597-167462597

C

A

intronic

De novo

-

Trost2022 G

CD247

7-0233-003

chr1:
167476894-167476895

GA

G

intronic

De novo

-

Trost2022 G

CD247

7-0233-003

chr1:
167476886-167476892

AACGTAG

CT

intronic

De novo

-

Trost2022 G

CD247

09C91621

chr1:
167410000-167410000

T

C

exonic

De novo

synonymous SNV

NM_000734
NM_198053

c.A63G
c.A63G

p.A21A
p.A21A

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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
Curation notes	View
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