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Results for "SERPINA1"

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
SERPINA1     AU3368303chr14:
94862960-94862960
GCintergenicDe novo--Yuen2017 G
SERPINA1     1-0862-003chr14:
94875417-94875417
TCintergenicDe novo--Yuen2017 G
SERPINA1     5-0116-003chr14:
94903180-94903180
CTintergenicDe novo--Yuen2017 G
SERPINA1     60-2027chr14:
94867213-94867213
GCintergenicDe novo--Michaelson2012 G
SERPINA1     7-0104-003chr14:
94893606-94893606
AGintergenicDe novo--Yuen2017 G
SERPINA1     iHART2782chr14:
94844884-94844884
CCGexonicPaternalframeshift insertionNM_000295
NM_001002235
NM_001127700
NM_001127702
NM_001127706
NM_001127707
NM_001002236
NM_001127701
NM_001127703
NM_001127704
NM_001127705
c.1158dupC
c.1158dupC
c.1158dupC
c.1158dupC
c.1158dupC
c.1158dupC
c.1158dupC
c.1158dupC
c.1158dupC
c.1158dupC
c.1158dupC
p.E387fs
p.E387fs
p.E387fs
p.E387fs
p.E387fs
p.E387fs
p.E387fs
p.E387fs
p.E387fs
p.E387fs
p.E387fs
-4.947E-5Ruzzo2019 G
SERPINA1     AU038703chr14:
94898353-94898353
GTintergenicDe 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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