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Results for "SPIRE1"

Variant Events: 14

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
SPIRE1     2-1480-003chr18:
12563134-12563134
CTintronicDe novo--Yuen2017 G
SPIRE1     2-1066-004chr18:
12483347-12483347
GAintronicDe novo--Yuen2017 G
SPIRE1     AU063004chr18:
12597009-12597009
TCintronicDe novo--Yuen2017 G
SPIRE1     2-1194-003chr18:
12557332-12557332
TCintronicDe novo--Yuen2017 G
SPIRE1     74-0688chr18:
12540400-12540400
GAintronicDe novo--Michaelson2012 G
SPIRE1     1-0175-003chr18:
12564037-12564037
ACintronicDe novo--Yuen2017 G
SPIRE1     AU006804chr18:
12650424-12650424
GTintronicDe novo--Yuen2017 G
SPIRE1     2-0116-004chr18:
12515567-12515567
TCintronicDe novo--Yuen2017 G
SPIRE1     AU1521301chr18:
12598874-12598874
TAintronicDe novo--Yuen2017 G
SPIRE1     AU3053302chr18:
12649535-12649535
AGintronicDe novo--Yuen2017 G
SPIRE1     2-1525-003chr18:
12569028-12569028
CTintronicDe novo--Yuen2017 G
SPIRE1     08C77405chr18:
12546831-12546831
ACexonicDe novononsynonymous SNVNM_001128626
NM_001128627
NM_020148
c.T445G
c.T85G
c.T445G
p.L149V
p.L29V
p.L149V
20.7-Satterstrom2020 E
SPIRE1     AU4186302chr18:
12605430-12605430
GAintronicDe novo--Yuen2017 G
SPIRE1     1-0175-004chr18:
12564037-12564037
ACintronicDe 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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