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Results for "SERPINB7"

Variant Events: 9

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
SERPINB7     2-0306-004chr18:
61550818-61550818
AGintergenicDe novo--Yuen2017 G
SERPINB7     2-1594-003chr18:
61451916-61451916
TCintronicDe novo--Yuen2017 G
SERPINB7     SP0001995chr18:
61471670-61471670
GAexonicDe novononsynonymous SNVNM_001261831
NM_001040147
NM_001261830
NM_003784
c.G893A
c.G944A
c.G944A
c.G944A
p.R298H
p.R315H
p.R315H
p.R315H
14.64.143E-5Feliciano2019 E
SERPINB7     1-0435-003chr18:
61498427-61498427
TGintergenicDe novo--Yuen2017 G
SERPINB7     1-0353-003chr18:
61545398-61545398
TCintergenicDe novo--Yuen2017 G
SERPINB7     2-0309-004chr18:
61513853-61513853
CGintergenicDe novo--Yuen2017 G
SERPINB7     P1369chr18:
61471655-61471655
TCexonicDe novononsynonymous SNVNM_001261831
NM_001040147
NM_001261830
NM_003784
c.T878C
c.T929C
c.T929C
c.T929C
p.I293T
p.I310T
p.I310T
p.I310T
16.39-Hashimoto2016 E
SERPINB7     AU3720302chr18:
61485183-61485184
TGTintergenicDe novo--Yuen2017 G
SERPINB7     2-0306-003chr18:
61550818-61550818
AGintergenicDe novo--Yuen2016 G
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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