Variant Results

or

Results for "SOAT1"

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

SOAT1

AU051A

chr1:
179310419-179310419

T

G

exonic

De novo

nonsynonymous SNV

NM_001252511
NM_001252512
NM_003101

c.T580G
c.T559G
c.T754G

p.S194A
p.S187A
p.S252A

26.5

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SOAT1

2-1277-004

chr1:
179295230-179295230

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOAT1

mAGRE4151

chr1:
179322765-179322765

T

TACGTGTTTTA

exonic

Maternal

stopgain

NM_001252511
NM_001252512
NM_003101

c.1468_1469insACGTGTTTTA
c.1447_1448insACGTGTTTTA
c.1642_1643insACGTGTTTTA

p.Y490_V491delinsYVFX
p.Y483_V484delinsYVFX
p.Y548_V549delinsYVFX

-

1.647E-5

Cirnigliaro2023 G

SOAT1

1-0373-003

chr1:
179280568-179280568

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SOAT1

1-0458-003

chr1:
179329644-179329644

A

G

intergenic

De novo

-

Yuen2017 G

SOAT1

5-0512-005

chr1:
179313475-179313475

C

T

intronic

De novo

-

Trost2022 G

SOAT1

AU2320301

chr1:
179312708-179312712

GTTTC

G

intronic

De novo

-

2.605E-5

Trost2022 G

SOAT1

5-0076-003

chr1:
179320109-179320109

T

C

intronic

De novo

-

Trost2022 G

SOAT1

1-0714-003

chr1:
179292784-179292784

G

A

intronic

De novo

-

Trost2022 G

SOAT1

4-0046-003

chr1:
179279689-179279689

T

C

intronic

De novo

-

Trost2022 G

SOAT1

2-0145-004

chr1:
179329588-179329588

G

A

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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