Variant Results

or

Results for "GPSM1"

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

GPSM1

3641_17au

chr9:
139250011-139250013

CAG

C

intronic

De novo

-

Fu2022 E

GPSM1

163218_0

chr9:
139234422-139234422

G

GGCCCCCCTCATCCTTTCAGGGCCATTGCAGCTGCCTGGTCCTTCCGAGGCC

intronic

De novo

-

Fu2022 E

GPSM1

A1430B

chr9:
139249470-139249595

CGAGGGTGAGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGATGACACATCCTGGGAGAGGGGTAGCCGGGTGCCGAGGGTGGTGACACGTCCTGGGGTAGGGGTAGCCGGGTGCT

C

UTR5

De novo

-

Fu2022 E

GPSM1

14540.p1

chr9:
139231956-139231956

G

A

exonic

De novo

nonsynonymous SNV

NM_001145638
NM_015597

c.G637A
c.G637A

p.G213S
p.G213S

34.0

4.079E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

GPSM1

36823

chr9:
139231956-139231956

G

A

exonic

De novo

nonsynonymous SNV

NM_001145638
NM_015597

c.G637A
c.G637A

p.G213S
p.G213S

34.0

4.079E-5

Fu2022 E
Trost2022 G

GPSM1

REACH000073

chr9:
139242937-139242937

C

T

intronic

De novo

-

Trost2022 G

GPSM1

SP0094544

chr9:
139250164-139250164

C

T

exonic

De novo

nonsynonymous SNV

NM_001145638

c.C1478T

p.S493L

6.726

1.702E-5

Trost2022 G

GPSM1

SP0062306

chr9:
139252574-139252574

C

T

exonic

De novo

nonsynonymous SNV

NM_001145639
NM_001200003
NM_001145638

c.C403T
c.C403T
c.C1930T

p.R135C
p.R135C
p.R644C

24.9

2.649E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

GPSM1

SP0023780

chr9:
139249486-139249486

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

GPSM1

SP0030765

chr9:
139232369-139232369

A

C

exonic

De novo

nonsynonymous SNV

NM_001145638
NM_015597

c.A769C
c.A769C

p.N257H
p.N257H

26.2

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

GPSM1

SP0080896

chr9:
139249470-139249595

CGAGGGTGAGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGATGACACATCCTGGGAGAGGGGTAGCCGGGTGCCGAGGGTGGTGACACGTCCTGGGGTAGGGGTAGCCGGGTGCT

C

UTR5

De novo

-

Fu2022 E

GPSM1

2-0306-003

chr9:
139235047-139235047

C

T

intronic

De novo

-

Yuen2016 G

GPSM1

Lim2017:36823

chr9:
139231956-139231956

G

A

exonic

De novo

nonsynonymous SNV

NM_001145638
NM_015597

c.G637A
c.G637A

p.G213S
p.G213S

34.0

4.079E-5

Lim2017 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
	More