Variant Results

or

Results for "GNE"

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

GNE

5-0042-003

chr9:
36274782-36274782

C

T

intronic

De novo

-

Trost2022 G

GNE

1-0153-005

chr9:
36307816-36307816

G

A

intergenic

De novo

-

Yuen2017 G

GNE

3-0309-000

chr9:
36227031-36227031

G

A

intronic

De novo

-

Trost2022 G

GNE

3-0140-000

chr9:
36262649-36262649

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GNE

MSSNG00329-004

chr9:
36263121-36263121

G

C

intronic

De novo

-

Trost2022 G

GNE

200675689@1082034232

chr9:
36246115-36246115

G

A

exonic

De novo

nonsynonymous SNV

NM_001190384
NM_001190388
NM_001128227
NM_001190383
NM_005476

c.C352T
c.C514T
c.C622T
c.C529T
c.C529T

p.R118C
p.R172C
p.R208C
p.R177C
p.R177C

20.8

2.471E-5

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

GNE

AU4463303

chr9:
36248312-36248312

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

GNE

MSSNG00046-003

chr9:
36214281-36214281

T

TATTA

downstream

De novo

-

Trost2022 G

GNE

200675689_1082034232

chr9:
36246115-36246115

G

A

exonic

De novo

nonsynonymous SNV

NM_001190384
NM_001190388
NM_001128227
NM_001190383
NM_005476

c.C352T
c.C514T
c.C622T
c.C529T
c.C529T

p.R118C
p.R172C
p.R208C
p.R177C
p.R177C

20.8

2.471E-5

Fu2022 E

GNE

SP0020134

chr9:
36223516-36223516

C

CCCGAGGCGGGTGGATCATGAGGTCAGGAGATCG

intronic

De novo

-

2.0E-4

Fu2022 E

GNE

1-0285-003

chr9:
36221129-36221129

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GNE

14153.p1

chr9:
36216623-36216623

C

T

UTR3

De novo

-

Turner2016 G

GNE

2-1491-003

chr9:
36234084-36234084

T

G

exonic

De novo

nonsynonymous SNV

NM_001190384
NM_001190388
NM_001128227
NM_001190383
NM_005476

c.A485C
c.A800C
c.A908C
c.A815C
c.A815C

p.H162P
p.H267P
p.H303P
p.H272P
p.H272P

16.02

-

Trost2022 G
Zhou2022 GE

GNE

Krgovic2022:035247

chr9:
36227333-36227333

T

TT

exonic

Unknown

frameshift insertion

NM_001190384
NM_001190388
NM_001128227
NM_001190383
NM_005476

c.863dupA
c.1178dupA
c.1286dupA
c.1193dupA
c.1193dupA

p.Q288fs
p.Q393fs
p.Q429fs
p.Q398fs
p.Q398fs

-

Krgovic2022 E

GNE

2-1417-003

chr9:
36265144-36265144

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GNE

SP0019306

chr9:
36218241-36218241

C

T

exonic

De novo

synonymous SNV

NM_001190384
NM_001190383
NM_001190388
NM_001128227
NM_005476

c.G1542A
c.G1650A
c.G1857A
c.G1965A
c.G1872A

p.A514A
p.A550A
p.A619A
p.A655A
p.A624A

-

0.0015

Feliciano2019 E
Trost2022 G

GNE

Chen2017:108

chr9:
36246115-36246115

G

A

exonic

De novo

nonsynonymous SNV

NM_001190384
NM_001190388
NM_001128227
NM_001190383
NM_005476

c.C352T
c.C514T
c.C622T
c.C529T
c.C529T

p.R118C
p.R172C
p.R208C
p.R177C
p.R177C

20.8

2.471E-5

Chen2017 E

GNE

AU4093304

chr9:
36319270-36319270

G

A

intergenic

De novo

-

Yuen2017 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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