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Results for "SPATA13"

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
SPATA13         2-1375-003chr13:
24673645-24673645
TCintronicDe novo--Yuen2016 G
Yuen2017 G
SPATA13         AU3839302chr13:
24701244-24701244
GTintronicDe novo--Yuen2017 G
SPATA13         AU3638302chr13:
24861584-24861586
AGCACintronicDe novo--Yuen2017 G
SPATA13         2-0007-004chr13:
24592360-24592360
GAintronicDe novo--Yuen2017 G
SPATA13         13515.p1chr13:
24703148-24703148
CTintronicDe novo--Turner2016 G
SPATA13         1-0269-005chr13:
24858604-24858604
GTintronicDe novo--Yuen2017 G
SPATA13         AU4212303chr13:
24630814-24630814
CAintronicDe novo--Yuen2017 G
SPATA13         SP0001293chr13:
24797252-24797252
CGexonicDe novononsynonymous SNVNM_001166271
NM_001286792
c.C185G
c.C371G
p.T62S
p.T124S
9.787-Feliciano2019 E
SPATA13         2-1522-003chr13:
24864608-24864608
CTintronicDe novo--Yuen2017 G
SPATA13         AU2140306chr13:
24791364-24791366
CTTCTintronicDe novo--Yuen2017 G
SPATA13         12652.p1 Complex Event; expand row to view variants  De novoframeshift deletionNM_001166271
NM_001286792
NM_001166271
NM_001286792
c.381delC
c.567delC
c.382delC
c.568delC
p.S127fs
p.S189fs
p.R128fs
p.R190fs
--Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Willsey2013 E
SPATA13         5-0033-004chr13:
24778543-24778545
CAGCintronicDe novo--Yuen2017 G
SPATA13         5-0065-003chr13:
24799535-24799535
GAintronicDe novo--Yuen2017 G
SPATA13         AU074403chr13:
24582426-24582426
TAintronicDe novo--Yuen2017 G
SPATA13         AU4483301chr13:
24841720-24841721
GCGintronicDe 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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