Variant Results

or

Results for "SEC24A"

Variant Events: 18

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

SEC24A

1-1070-003

chr5:
134003358-134003358

A

C

intronic

De novo

-

Trost2022 G

SEC24A

2-1209-003

chr5:
134003662-134003662

G

C

intronic

De novo

-

Trost2022 G

SEC24A

7-0233-003

chr5:
133993815-133993815

A

GG

intronic

De novo

-

Trost2022 G

SEC24A

5919

chr5:
134002490-134002490

G

T

intronic

De novo

-

Trost2022 G

SEC24A

MSSNG00142-003

chr5:
133989079-133989079

A

T

intronic

De novo

-

Trost2022 G

SEC24A

2-1577-003

chr5:
134031198-134031198

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEC24A

2-1577-003

chr5:
134020371-134020371

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEC24A

2-1120-003

chr5:
134022332-134022332

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEC24A

AU017704

chr5:
134048409-134048409

A

C

intronic

De novo

-

Trost2022 G

SEC24A

2-1452-003

chr5:
133992403-133992403

C

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SEC24A

7-0321-003A

chr5:
134060005-134060005

G

A

intronic

De novo

-

Trost2022 G

SEC24A

36990

chr5:
134059282-134059282

C

G

exonic

De novo

nonsynonymous SNV

NM_021982

c.C3089G

p.P1030R

12.8

-

Fu2022 E
Trost2022 G

SEC24A

1-0388-003

chr5:
134012466-134012466

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEC24A

MR432

chr5:
134007558-134007558

G

C

exonic

De novo

nonsynonymous SNV

NM_001252231
NM_021982

c.G799C
c.G799C

p.E267Q
p.E267Q

19.24

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SEC24A

12152.p1

chr5:
134002490-134002490

G

T

intronic

De novo

-

Satterstrom2020 E

SEC24A

SP0052923

chr5:
133984817-133984817

G

T

exonic

De novo

nonsynonymous SNV

NM_001252231
NM_021982

c.G51T
c.G51T

p.Q17H
p.Q17H

16.44

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SEC24A

2-0145-004

chr5:
133985452-133985452

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEC24A

14606.p1

Complex Event; expand row to view variants

De novo

nonsynonymous SNV, nonframeshift substitution

NM_021982
NM_021982
NM_021982

c.C3088A
c.C3089G
c.3088_3089AG

p.P1030T
p.P1030R
N/A

12.8

-

Iossifov2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Kosmicki2017 E
Krumm2015 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Wilfert2021 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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