Variant Results

or

Results for "GPATCH8"

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

GPATCH8

SP0128755

chr17:
42501859-42501859

T

C

exonic

De novo

nonsynonymous SNV

NM_001304943
NM_001304939
NM_001304942
NM_001002909
NM_001304941
NM_001304940

c.A116G
c.A275G
c.A116G
c.A350G
c.A116G
c.A116G

p.D39G
p.D92G
p.D39G
p.D117G
p.D39G
p.D39G

17.18

-

Antaki2022 GE
Fu2022 E

GPATCH8

11161_p1

chr17:
42476555-42476555

T

C

exonic

De novo

nonsynonymous SNV

NM_001304943
NM_001304939
NM_001304942
NM_001002909
NM_001304941
NM_001304940

c.A2656G
c.A2815G
c.A2656G
c.A2890G
c.A2656G
c.A2656G

p.S886G
p.S939G
p.S886G
p.S964G
p.S886G
p.S886G

13.11

-

Fu2022 E

GPATCH8

993-20365

chr17:
42475172-42475176

TTGAG

T

exonic

frameshift deletion

NM_001304943
NM_001304939
NM_001304942
NM_001002909
NM_001304941
NM_001304940

c.4035_4038del
c.4194_4197del
c.4035_4038del
c.4269_4272del
c.4035_4038del
c.4035_4038del

p.H1345fs
p.H1398fs
p.H1345fs
p.H1423fs
p.H1345fs
p.H1345fs

-

1.891E-5

Callaghan2019 G

GPATCH8

2-1362-004

chr17:
42542283-42542283

A

G

intronic

De novo

-

Yuen2017 G

GPATCH8

AU0146301

chr17:
42590464-42590470

GTTTTTT

GTT

intergenic

De novo

-

Yuen2017 G

GPATCH8

AU2293301

chr17:
42537291-42537291

C

G

intronic

De novo

-

Yuen2017 G

GPATCH8

5-0129-003

chr17:
42610953-42610953

C

T

intergenic

De novo

-

Yuen2017 G

GPATCH8

Codina-Sola2015:ASD_15

chr17:
42475172-42475176

TTGAG

T

exonic

Paternal

frameshift deletion

NM_001304943
NM_001304939
NM_001304942
NM_001002909
NM_001304941
NM_001304940

c.4035_4038del
c.4194_4197del
c.4035_4038del
c.4269_4272del
c.4035_4038del
c.4035_4038del

p.H1345fs
p.H1398fs
p.H1345fs
p.H1423fs
p.H1345fs
p.H1345fs

-

1.891E-5

Codina-Sola2015 E

GPATCH8

AU050910

chr17:
42505376-42505376

G

C

intronic

De novo

-

Yuen2017 G

GPATCH8

1-0560-003

chr17:
42561312-42561312

C

T

intronic

De novo

-

Yuen2017 G

GPATCH8

11161.p1

chr17:
42476555-42476555

T

C

exonic

De novo

nonsynonymous SNV

NM_001304943
NM_001304939
NM_001304942
NM_001002909
NM_001304941
NM_001304940

c.A2656G
c.A2815G
c.A2656G
c.A2890G
c.A2656G
c.A2656G

p.S886G
p.S939G
p.S886G
p.S964G
p.S886G
p.S886G

13.11

-

Ji2016 E
Krumm2015 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E

GPATCH8

AU2293301

chr17:
42552673-42552673

G

A

intronic

De novo

-

Yuen2017 G

GPATCH8

2-1741-003

chr17:
42529411-42529420

GGCGGATTGC

GGC

intronic

De novo

-

Yuen2017 G

GPATCH8

1-0052-004

chr17:
42633697-42633697

G

T

intergenic

De novo

-

Yuen2017 G

GPATCH8

AU3997301

chr17:
42536925-42536925

C

T

intronic

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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