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Results for "SEPT10"

Variant Events: 7

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
SEPT10     AU3889305chr2:
110302715-110302715
GAintronicDe novo--Yuen2017 G
SEPT10     1-0553-003chr2:
110307359-110307359
GAintronicDe novo--Yuen2017 G
SEPT10     1-0373-003chr2:
110328765-110328765
GTintronicDe novo--Yuen2017 G
SEPT10     2-1376-003chr2:
110365010-110365010
CTintronicDe novo--Yuen2016 G
SEPT10     AU2437302chr2:
110301317-110301317
CGUTR3De novo--Yuen2017 G
SEPT10     AU213Achr2:
110310766-110310766
AGexonicDe novosynonymous SNVNM_178584
NM_144710
c.T990C
c.T1059C
p.H330H
p.H353H
--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SEPT10     AC677.201chr2:
110323354-110323354
CGexonicDe novononsynonymous SNVNM_178584
NM_144710
c.G776C
c.G845C
p.W259S
p.W282S
23.08.281E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
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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