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Results for "CSPP1"

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
CSPP1     AU4145303chr8:
67976790-67976790
TCintronicDe novo--Yuen2017 G
CSPP1     AU4485302chr8:
68006758-68006758
CTintronicDe novo--Yuen2017 G
CSPP1     2-1152-003chr8:
67991659-67991659
GAintronicDe novo--Yuen2016 G
CSPP1     2-1485-004chr8:
68043368-68043368
GAintronicDe novo--Yuen2017 G
CSPP1     AU4069301chr8:
67978506-67978506
GAintronicDe novo--Yuen2017 G
CSPP1     AU4392302chr8:
67984842-67984842
GTintronicDe novo--Yuen2017 G
CSPP1     12759.p1chr8:
68074158-68074158
CTintronicDe novo--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
CSPP1     2-1485-003chr8:
68043368-68043368
GAintronicDe novo--Yuen2017 G
CSPP1     2-1380-003chr8:
68084781-68084781
ACexonicDe novononsynonymous SNVNM_001291339
NM_024790
c.A1909C
c.A2944C
p.K637Q
p.K982Q
26.0-Yuen2016 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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