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Results for "SERINC5"

Variant Events: 12

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
SERINC5     NDAR_INVNE346GDX_wes1chr5:
79446685-79446685
GAintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
SERINC5     1-0882-003chr5:
79445964-79445964
CTintronicDe novo--Yuen2017 G
SERINC5     2-0238-004chr5:
79550652-79550652
GAintronicDe novo--Yuen2017 G
SERINC5     AU054303chr5:
79435846-79435846
CTUTR3De novo--Yuen2017 G
SERINC5     2-1280-003chr5:
79476711-79476711
AGintronicDe novo--Yuen2016 G
Yuen2017 G
SERINC5     AU2023302chr5:
79542909-79542909
AGintronicDe novo--Yuen2017 G
SERINC5     1-0481-003chr5:
79417977-79417977
AGintronicDe novo--Yuen2017 G
SERINC5     80001101063chr5:
79473662-79473662
ACintronicDe novo--Satterstrom2020 E
SERINC5     3-0262-000chr5:
79465157-79465157
CTsplicingDe novosplicing14.578.289E-6Tammimies2015 E
SERINC5     1-0162-004chr5:
79513870-79513870
ATintronicDe novo--Yuen2017 G
SERINC5     1-0479-006chr5:
79538153-79538153
TCintronicDe novo--Yuen2017 G
SERINC5     11258.p1chr5:
79410450-79410450
CTintronicDe novo--Satterstrom2020 E
Source Variant Information

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Source:

Paper alias:

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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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