Variant Results

or

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Results for "SORD"

Variant Events: 16

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

SORD

12610.p1

chr15:
45365730-45365730

G

A

UTR3

De novo

-

Iossifov2014 E
Kosmicki2017 E

SORD

1-0353-003

chr15:
45321407-45321407

T

A

intronic

De novo

-

-

Yuen2017 G

SORD

AU3398301

chr15:
45325619-45325619

G

A

intronic

De novo

-

-

Yuen2017 G

SORD

1-0674-004

chr15:
45356642-45356642

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SORD

AU3907302

chr15:
45339235-45339238

CAAA

CAA

intronic

De novo

-

-

Yuen2017 G

SORD

SP0098371

chr15:
45315504-45315504

A

G

exonic

De novo

nonsynonymous SNV

NM_003104

c.A23G

p.N8S

2.264

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SORD

MSSNG00375-003

chr15:
45365301-45365301

T

G

intronic

De novo

-

-

Trost2022 G

SORD

Chen2017:119

chr15:
45353297-45353297

C

T

exonic

De novo

stopgain

NM_003104

c.C298T

p.R100X

19.09

Chen2017 E

SORD

AU2604301

chr15:
45332877-45332877

C

A

intronic

De novo

-

-

Trost2022 G

SORD

SP0160569

chr15:
45361148-45361148

C

G

exonic

De novo

nonsynonymous SNV

NM_003104

c.C684G

p.S228R

2.936

-

Trost2022 G

SORD

200675733@1082034734

chr15:
45353297-45353297

C

T

exonic

De novo

stopgain

NM_003104

c.C298T

p.R100X

19.09

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SORD

60-1015

chr15:
45335545-45335545

A

G

exonic

Inherited

nonsynonymous SNV

NM_003104

c.A191G

p.K64R

13.43

Patowary2019 E

SORD

2-1464-003

chr15:
45319406-45319407

GG

TA

intronic

De novo

-

-

Trost2022 G

SORD

2-1232-003

chr15:
45322171-45322172

CA

TG

intronic

De novo

-

-

Trost2022 G

SORD

2-1243-003

chr15:
45319394-45319395

AG

CA

intronic

De novo

-

-

Trost2022 G

SORD

2-1243-003

chr15:
45319406-45319407

GG

TA

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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