Variant Results

or

Results for "SEC23A"

Variant Events: 14

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

SEC23A

14544.p1

chr14:
39561822-39561822

T

C

exonic

nonsynonymous SNV

NM_006364

c.A289G

p.S97G

10.63

-

Zhou2022 GE

SEC23A

7-0104-003

chr14:
39559569-39559569

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEC23A

MSSNG00005-004

chr14:
39508130-39508130

C

A

intronic

De novo

-

Trost2022 G

SEC23A

mAGRE2587

chr14:
39514528-39514529

AC

A

splicing

Paternal

splicing

-

Cirnigliaro2023 G

SEC23A

mAGRE2585

chr14:
39514528-39514529

AC

A

splicing

Paternal

splicing

-

Cirnigliaro2023 G

SEC23A

mAGRE2584

chr14:
39514528-39514529

AC

A

splicing

Paternal

splicing

-

Cirnigliaro2023 G

SEC23A

14482.p1

chr14:
39554885-39554885

A

C

intronic

De novo

-

Turner2016 G

SEC23A

09C89133

chr14:
39514393-39514393

C

T

exonic

De novo

nonsynonymous SNV

NM_006364

c.G1873A

p.A625T

17.86

-

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

SEC23A

1-0065-005

chr14:
39508130-39508130

C

A

intronic

De novo

-

Yuen2017 G

SEC23A

REACH000718

chr14:
39508366-39508366

T

C

intronic

De novo

-

Trost2022 G

SEC23A

iHART2585

chr14:
39514528-39514529

AC

A

splicing

Paternal

splicing

-

Ruzzo2019 G

SEC23A

SP0014917

chr14:
39508230-39508230

C

T

intronic

De novo

-

Fu2022 E
Zhou2022 GE

SEC23A

iHART2584

chr14:
39514528-39514529

AC

A

splicing

Paternal

splicing

-

Ruzzo2019 G

SEC23A

iHART2587

chr14:
39514528-39514529

AC

A

splicing

Paternal

splicing

-

Ruzzo2019 G

Source Variant Information

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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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