Variant Results

or

or

Results for "ARSG"

Variant Events: 27

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

ARSG

1-0121-003

chr17:
66313731-66313731

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ARSG

MT_73.3

chr17:
66416736-66416738

CAT

C

UTR3

De novo

-

-

Trost2022 G
Trost2022 G
Trost2022 G

ARSG

SP0195182

chr17:
66397602-66397602

G

C

intronic

De novo

-

-

Trost2022 G

ARSG

2-0139-004

chr17:
66398387-66398388

GT

G

intronic

De novo

-

-

Trost2022 G

ARSG

5-0103-003

chr17:
66368441-66368441

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ARSG

AU3768302

chr17:
66286162-66286162

A

G

intronic

De novo

-

-

Trost2022 G
Trost2022 G
Yuen2017 G

ARSG

AU2756306

chr17:
66354265-66354265

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ARSG

mAGRE6042

chr17:
66391261-66391261

T

G

exonic

Paternal

stopgain

NM_001267727
NM_014960

c.T1139G
c.T1139G

p.L380X
p.L380X

43.0

-

Cirnigliaro2023 G

ARSG

SP0015356

chr17:
66366598-66366598

G

T

exonic

De novo

synonymous SNV

NM_001267727
NM_014960

c.G915T
c.G915T

p.P305P
p.P305P

-

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

ARSG

SP0061192

chr17:
66366598-66366598

G

A

exonic

De novo

synonymous SNV

NM_001267727
NM_014960

c.G915A
c.G915A

p.P305P
p.P305P

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ARSG

74-0115

chr17:
66303922-66303922

C

T

intronic

De novo

-

-

Michaelson2012 G

ARSG

AU3865301

chr17:
66369880-66369880

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ARSG

1-0473-003

chr17:
66378308-66378308

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ARSG

AU4188302

chr17:
66353530-66353530

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ARSG

5-5101-003

chr17:
66300909-66300909

A

T

intronic

De novo

-

-

Trost2022 G

ARSG

3-0202-000

chr17:
66307129-66307129

A

G

intronic

De novo

-

-

Trost2022 G

ARSG

2-1205-003

chr17:
66299095-66299095

A

G

intronic

De novo

-

-

Yuen2017 G

ARSG

SP0234656

chr17:
66397601-66397601

G

C

intronic

De novo

-

-

Trost2022 G

ARSG

SP0120739

chr17:
66397602-66397602

G

C

intronic

De novo

-

-

Trost2022 G

ARSG

60-2036

chr17:
66364696-66364696

G

A

exonic

Inherited

nonsynonymous SNV

NM_001267727
NM_014960

c.G712A
c.G712A

p.G238R
p.G238R

12.95

Patowary2019 E

ARSG

1-0630-003

chr17:
66385698-66385698

G

T

intronic

De novo

-

-

Trost2022 G

ARSG

MSSNG00367-004

chr17:
66394487-66394491

TAGAG

T

intronic

De novo

-

-

Trost2022 G

ARSG

SP0166411

chr17:
66343345-66343345

G

A

intronic

De novo

-

-

Trost2022 G

ARSG

MSSNG00354-004

chr17:
66375766-66375766

C

T

intronic

De novo

-

-

Trost2022 G

ARSG

3-0749-000A

chr17:
66316298-66316298

C

T

intronic

De novo

-

-

Trost2022 G

ARSG

2-1297-003

chr17:
66308656-66308656

T

TATTTTCCCTGTGTTTGC

intronic

De novo

-

-

Yuen2017 G

ARSG

2-1823-003

chr17:
66333500-66333500

G

A

intronic

De novo

-

-

Trost2022 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
Curation notes	View
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