Variant Results

or

or

Results for "GFM1"

Variant Events: 15

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

GFM1

14153.p1

chr3:
158398822-158398822

G

A

intronic

De novo

-

-

Turner2016 G

GFM1

3-0543-000

chr3:
158382211-158382211

T

C

intronic

De novo

-

-

Trost2022 G

GFM1

MSSNG00030-004

chr3:
158383151-158383151

G

T

exonic

De novo

nonsynonymous SNV

NM_001308166
NM_024996
NM_001308164

c.G1406T
c.G1406T
c.G1463T

p.G469V
p.G469V
p.G488V

27.5

-

Trost2022 G

GFM1

REACH000239

chr3:
158382171-158382171

C

G

intronic

De novo

-

-

Trost2022 G

GFM1

3-0446-000

chr3:
158380348-158380348

A

T

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

GFM1

SP0135788

chr3:
158363385-158363385

G

C

intronic

De novo

-

-

Fu2022 E

GFM1

DEASD_3005_001

chr3:
158363454-158363454

G

A

exonic

De novo

nonsynonymous SNV

NM_001308164
NM_001308166
NM_024996

c.G118A
c.G118A
c.G118A

p.V40M
p.V40M
p.V40M

14.15

-

Fu2022 E

GFM1

SP0125757

chr3:
158371246-158371246

A

C

exonic

De novo

nonsynonymous SNV

NM_001308166
NM_024996
NM_001308164

c.A988C
c.A988C
c.A1045C

p.N330H
p.N330H
p.N349H

12.37

-

Fu2022 E

GFM1

13501.p1

chr3:
158409288-158409288

T

G

UTR3

De novo

-

-

Satterstrom2020 E
Trost2022 G

GFM1

mAGRE2222

chr3:
158409230-158409231

GT

G

exonic

Paternal

frameshift deletion

NM_024996
NM_001308164

c.2231delT
c.2288delT

p.V744fs
p.V763fs

-

Cirnigliaro2023 G

GFM1

mAGRE4277

chr3:
158384176-158384176

G

A

splicing

Maternal

splicing

26.6

Cirnigliaro2023 G

GFM1

AU3636302

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Trost2022 G
Yuen2017 G

GFM1

iHART2222

chr3:
158409230-158409231

GT

G

exonic

Paternal

frameshift deletion

NM_024996
NM_001308164

c.2231delT
c.2288delT

p.V744fs
p.V763fs

-

Ruzzo2019 G

GFM1

AU2162302

chr3:
158398536-158398536

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GFM1

111312

chr3:
158383151-158383151

G

A

exonic

nonsynonymous SNV

NM_001308166
NM_024996
NM_001308164

c.G1406A
c.G1406A
c.G1463A

p.G469D
p.G469D
p.G488D

27.6

Woodbury-Smith2022 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