Variant Results

or

Results for "SEMG2"

Variant Events: 13

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

SEMG2

SP0003494

chr20:
43851022-43851022

C

T

exonic

Mosaic

nonsynonymous SNV

NM_003008

c.C749T

p.P250L

0.451

5.794E-5

Feliciano2019 E

SEMG2

11818.p1

chr20:
43859486-43859486

G

A

intergenic

De novo

-

Werling2018 G

SEMG2

2-1296-003

chr20:
43873279-43873291

GTATATATATATA

GTATATATATA

intergenic

De novo

-

Yuen2017 G

SEMG2

AU3891303

chr20:
43858431-43858431

G

C

intergenic

De novo

-

Yuen2017 G

SEMG2

MSSNG00022-003

chr20:
43850455-43850455

G

T

exonic

De novo

nonsynonymous SNV

NM_003008

c.G182T

p.G61V

10.49

8.24E-6

Trost2022 G
Zhou2022 GE

SEMG2

mAGRE1357

chr20:
43851936-43851941

AATATT

A

exonic

Maternal

frameshift deletion

NM_003008

c.1664_1668del

p.N555fs

-

Cirnigliaro2023 G

SEMG2

mAGRE1356

chr20:
43851936-43851941

AATATT

A

exonic

Maternal

frameshift deletion

NM_003008

c.1664_1668del

p.N555fs

-

Cirnigliaro2023 G

SEMG2

200675428@1082034664

chr20:
43850315-43850315

T

C

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

SEMG2

1-0150-004

chr20:
43857674-43857674

T

C

intergenic

De novo

-

Yuen2017 G

SEMG2

iHART1357

chr20:
43851936-43851941

AATATT

A

exonic

Maternal

frameshift deletion

NM_003008

c.1664_1668del

p.N555fs

-

Ruzzo2019 G

SEMG2

09C81574

chr20:
43851703-43851703

G

A

exonic

De novo

nonsynonymous SNV

NM_003008

c.G1430A

p.R477Q

3.24

-

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

SEMG2

iHART1356

chr20:
43851936-43851941

AATATT

A

exonic

Maternal

frameshift deletion

NM_003008

c.1664_1668del

p.N555fs

-

Ruzzo2019 G

SEMG2

Al-Mubarak2017:ASD-66

chr20:
43850773-43850773

G

A

exonic

Unknown

stopgain

NM_003008

c.G500A

p.W167X

10.04

8.241E-6

Al-Mubarak2017 E

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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