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Results for "GPATCH8"

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
GPATCH8     993-20365chr17:
42475172-42475176
TTGAGTexonicframeshift deletionNM_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-5Callaghan2019 G
GPATCH8     2-1362-004chr17:
42542283-42542283
AGintronicDe novo--Yuen2017 G
GPATCH8     AU0146301chr17:
42590464-42590470
GTTTTTTGTTintergenicDe novo--Yuen2017 G
GPATCH8     AU2293301chr17:
42537291-42537291
CGintronicDe novo--Yuen2017 G
GPATCH8     5-0129-003chr17:
42610953-42610953
CTintergenicDe novo--Yuen2017 G
GPATCH8     Codina-Sola2015:ASD_15chr17:
42475172-42475176
TTGAGTexonicPaternalframeshift deletionNM_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-5Codina-Sola2015 E
GPATCH8     AU050910chr17:
42505376-42505376
GCintronicDe novo--Yuen2017 G
GPATCH8     1-0560-003chr17:
42561312-42561312
CTintronicDe novo--Yuen2017 G
GPATCH8     11161.p1chr17:
42476555-42476555
TCexonicDe novononsynonymous SNVNM_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     AU2293301chr17:
42552673-42552673
GAintronicDe novo--Yuen2017 G
GPATCH8     2-1741-003chr17:
42529411-42529420
GGCGGATTGCGGCintronicDe novo--Yuen2017 G
GPATCH8     1-0052-004chr17:
42633697-42633697
GTintergenicDe novo--Yuen2017 G
GPATCH8     AU3997301chr17:
42536925-42536925
CTintronicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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