Variant Results

or

Results for "SEC22C"

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

SEC22C

1-0219-003

chr3:
42639446-42639446

T

C

intronic

De novo

-

Trost2022 G

SEC22C

3-0345-001

chr3:
42604545-42604545

G

A

intronic

De novo

-

Trost2022 G

SEC22C

1-0274-003

chr3:
42632655-42632657

CGC

AGA

intronic

De novo

-

Trost2022 G

SEC22C

2-1795-003

chr3:
42601990-42601990

G

A

intronic

De novo

-

Trost2022 G

SEC22C

SSC00624

chr3:
42610365-42610365

A

G

exonic

De novo

synonymous SNV

NM_001201572
NM_001201584
NM_004206
NM_032970

c.T174C
c.T174C
c.T174C
c.T174C

p.F58F
p.F58F
p.F58F
p.F58F

-

Fu2022 E
Lim2017 E
Trost2022 G

SEC22C

1-0299-004

chr3:
42639026-42639026

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEC22C

2-1345-003

chr3:
42612119-42612119

C

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SEC22C

08C73982

chr3:
42599099-42599099

C

T

exonic

De novo

nonsynonymous SNV

NM_001201572
NM_001201584
NM_004206
NM_032970

c.G616A
c.G616A
c.G616A
c.G616A

p.G206R
p.G206R
p.G206R
p.G206R

31.0

-

Fu2022 E

SEC22C

iHART1375

chr3:
42599189-42599189

C

A

splicing

Paternal

splicing

25.9

2.0E-4

Ruzzo2019 G

SEC22C

11581.p1

chr3:
42610365-42610365

A

G

exonic

De novo

synonymous SNV

NM_001201572
NM_001201584
NM_004206
NM_032970

c.T174C
c.T174C
c.T174C
c.T174C

p.F58F
p.F58F
p.F58F
p.F58F

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

SEC22C

mAGRE1217

chr3:
42623451-42623451

G

C

UTR5

Paternal

-

Cirnigliaro2023 G

SEC22C

mAGRE1375

chr3:
42599189-42599189

C

A

splicing

Paternal

splicing

25.9

2.0E-4

Cirnigliaro2023 G

SEC22C

SP0078103

chr3:
42599143-42599143

G

C

exonic

De novo

nonsynonymous SNV

NM_001201572
NM_001201584
NM_004206
NM_032970

c.C572G
c.C572G
c.C572G
c.C572G

p.S191C
p.S191C
p.S191C
p.S191C

26.9

-

Fu2022 E

SEC22C

iHART1217

chr3:
42623451-42623451

G

C

UTR5

Paternal

-

Ruzzo2019 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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