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Results for "SSPN"

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
SSPN     1-0533-003chr12:
26484206-26484206
TAintergenicDe novo--Yuen2017 G
SSPN     1-0820-003chr12:
26425792-26425792
CTintergenicDe novo--Yuen2017 G
SSPN     AU3605303chr12:
26381437-26381437
GAintronicDe novo--Yuen2017 G
SSPN     2-0003-003chr12:
26379271-26379271
CTintronicDe novo--Yuen2017 G
SSPN     JASD_Fam0218chr12:
26377307-26377307
AGexonicDe novononsynonymous SNVNM_001135823
NM_005086
c.A52G
c.A361G
p.M18V
p.M121V
10.038.238E-6Takata2018 E
SSPN     1-0570-003chr12:
26441686-26441686
CTintergenicDe novo--Yuen2017 G
SSPN     5-0017-003chr12:
26430914-26430914
GAintergenicDe novo--Yuen2017 G
SSPN     1-0481-003chr12:
26402668-26402671
AGAGAintergenicDe novo--Yuen2017 G
SSPN     1-0184-003chr12:
26454395-26454411
TTTATTATTATTATTATTTTATTATTATTATintergenicDe novo--Yuen2017 G
SSPN     AU3713302chr12:
26450530-26450530
GTintergenicDe novo--Yuen2017 G
SSPN     iHART3013chr12:
26383642-26383642
AGsplicingMaternalsplicing19.78-Ruzzo2019 G
SSPN     2-0270-004chr12:
26359847-26359847
CGintronicDe novo--Yuen2017 G
SSPN     1-0155-003chr12:
26348429-26348429
CTUTR5De novo--Yuen2017 G
SSPN     iHART3011chr12:
26383642-26383642
AGsplicingMaternalsplicing19.78-Ruzzo2019 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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