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Results for "QSER1"

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
QSER1     7-0035-003chr11:
32971216-32971216
CTintronicDe novo--Yuen2017 G
QSER1     A18chr11:
32955979-32955979
CGexonicDe novononsynonymous SNVNM_001076786c.C2788Gp.L930V11.12-Jiao2019 E
QSER1     368-05-104915chr11:
33014733-33014733
GAintergenicDe novo3.853-Satterstrom2020 E
QSER1     NDAR_INVCW452LNC_wes1chr11:
32997870-32997870
CTintronicDe novo-0.0015Kosmicki2017 E
Satterstrom2020 E
QSER1     NDAR_INVRT684RNC_wes1chr11:
32997870-32997870
CTintronicDe novo-0.0015Kosmicki2017 E
Satterstrom2020 E
QSER1     2-1567-004chr11:
33015269-33015272
GTTAGintergenicDe novo--Yuen2017 G
QSER1     11432.p1chr11:
32953753-32953753
GTexonicMosaicnonsynonymous SNVNM_001076786c.G562Tp.V188F19.73-Dou2017 E
QSER1     20-0720301-18chr11:
32955457-32955457
CGexonicDe novononsynonymous SNVNM_001076786c.C2266Gp.R756G14.75-Satterstrom2020 E
QSER1     2-1338-003chr11:
32976679-32976679
AGintronicDe novo--Yuen2017 G
QSER1     AU3154302chr11:
32925964-32925964
CGintronicDe novo--Yuen2017 G
QSER1     2-1429-003chr11:
33010307-33010307
GAintergenicDe novo--Yuen2017 G
QSER1     2-1251-003chr11:
32928045-32928045
AGintronicDe novo--Yuen2017 G
QSER1     AU3368303chr11:
32951742-32951742
AGintronicDe 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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