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Results for "SPART"

Variant Events: 11

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
SPART     1-0197-004chr13:
36911743-36911743
CTintronicDe novo--Trost2022 G
Yuen2017 G
SPART     SP0122398chr13:
36909379-36909379
CAexonicDe novononsynonymous SNVNM_001142294
NM_001142295
NM_015087
NM_001142296
c.G589T
c.G589T
c.G589T
c.G589T
p.V197F
p.V197F
p.V197F
p.V197F
14.33-Fu2022 E
Trost2022 G
Zhou2022 GE
SPART     1-0763-003chr13:
36999376-36999376
CTintergenicDe novo--Yuen2017 G
SPART     JASD_Fam0046chr13:
36909888-36909888
AGexonicDe novononsynonymous SNVNM_001142294
NM_001142295
NM_015087
NM_001142296
c.T80C
c.T80C
c.T80C
c.T80C
p.V27A
p.V27A
p.V27A
p.V27A
23.3-Takata2018 E
SPART     MSSNG00402-003chr13:
36915293-36915293
AGintronicDe novo--Trost2022 G
SPART     2-1440-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
SPART     MSSNG00353-004chr13:
36875126-36875126
TCdownstreamDe novo--Trost2022 G
SPART     1-0025-004chr13:
36944246-36944246
GAUTR5De novo--Trost2022 G
Yuen2017 G
SPART     1-0269-005chr13:
36944767-36944767
TAdownstream;upstreamDe novo--Trost2022 G
Yuen2017 G
SPART     AU3790302chr13:
36890518-36890518
CTintronicDe novo--Trost2022 G
Yuen2017 G
SPART     1-0255-003chr13:
36992105-36992105
TCintergenicDe novo--Yuen2016 G
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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