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Results for "SERPINA12"

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
SERPINA12     14496.p1chr14:
94968029-94968029
ACintronicDe novo--Turner2016 G
SERPINA12     14370.p1chr14:
95022656-95022656
CTintergenicDe novo--Turner2016 G
SERPINA12     1-0158-012chr14:
95016715-95016715
GTintergenicDe novo--Yuen2017 G
SERPINA12     iHART1424chr14:
94953688-94953689
TATexonicMaternalframeshift deletionNM_001304461
NM_173850
c.1196delT
c.1196delT
p.I399fs
p.I399fs
-8.248E-6Ruzzo2019 G
SERPINA12     iHART2211chr14:
94962709-94962709
CAsplicingPaternalsplicing10.919.892E-5Ruzzo2019 G
SERPINA12     1-0965-003chr14:
95012166-95012166
TCintergenicDe novo--Yuen2017 G
SERPINA12     1-0526-003chr14:
95021324-95021324
GAintergenicDe 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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