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Results for "SERINC2"

Variant Events: 10

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
SERINC2     2-1452-003chr1:
31904886-31904886
CTintronicDe novo--Yuen2017 G
SERINC2     2-1452-003chr1:
31904877-31904877
CTintronicDe novo--Yuen2017 G
SERINC2     SP0075797chr1:
31905781-31905781
AGintronicDe novo--Fu2022 E
SERINC2     SP0055798chr1:
31882742-31882742
GAintronicDe novo-7.053E-5Fu2022 E
SERINC2     2-0713-003chr1:
31964610-31964610
CAintergenicDe novo--Yuen2017 G
SERINC2     SP0139899chr1:
31898783-31898783
CTintronicDe novo-1.0E-4Fu2022 E
SERINC2     SP0070865chr1:
31887315-31887315
ATUTR5De novo--Fu2022 E
SERINC2     09C79813chr1:
31905923-31905923
CGexonicDe novononsynonymous SNVNM_001199037
NM_018565
NM_178865
NM_001199038
NM_001199039
c.C1135G
c.C1135G
c.C1123G
c.C1150G
c.C958G
p.R379G
p.R379G
p.R375G
p.R384G
p.R320G
16.56-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SERINC2     1-0113-003chr1:
31941517-31941517
GAintergenicDe novo--Yuen2016 G
SERINC2     14590.p1chr1:
31902659-31902659
ACintronicDe novo--Turner2016 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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