Variant Results

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Results for "GAS8"

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

GAS8

SP0208171

chr16:
90099338-90099338

T

G

intronic

De novo

-

-

Trost2022 G

GAS8

SP0074540

chr16:
90099377-90099377

G

A

intronic

De novo

-

-

Fu2022 E

GAS8

SP0067215

chr16:
90099338-90099338

T

G

intronic

De novo

-

-

Trost2022 G

GAS8

SP0099065

chr16:
90099338-90099338

T

G

intronic

De novo

-

-

Trost2022 G

GAS8

REACH000089

chr16:
90088299-90088299

C

A

intronic

De novo

-

-

Trost2022 G

GAS8

2-0242-004

chr16:
90090314-90090315

CA

TT

intronic

De novo

-

-

Trost2022 G

GAS8

C9C2C_01

chr16:
90088299-90088299

C

A

intronic

De novo

-

-

Trost2022 G

GAS8

L7T2M_01

chr16:
90088299-90088299

C

A

intronic

De novo

-

-

Trost2022 G

GAS8

1-0180-004

chr16:
90104141-90104141

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GAS8

2-0256-004

chr16:
90100839-90100839

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GAS8

PN400100

chr16:
90097861-90097861

G

A

exonic

Unknown

nonsynonymous SNV

NM_001286209
NM_001481

c.G170A
c.G245A

p.R57Q
p.R82Q

29.5

Leblond2019 E

GAS8

11681.p1

chr16:
90109616-90109616

C

T

exonic

Mosaic Mat.

synonymous SNV

NM_001286208
NM_001286205
NM_001286209
NM_001481

c.C724T
c.C1051T
c.C1225T
c.C1300T

p.L242L
p.L351L
p.L409L
p.L434L

-

Dou2017 E

GAS8

1-0534-004

chr16:
90090282-90090282

T

C

intronic

De novo

-

-

Trost2022 G
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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