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Results for "TULP4"

Variant Events: 10

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
TULP4     AU065807chr6:
158785294-158785294
AGintronicDe novo--Yuen2017 G
TULP4     20-1004338-12chr6:
158923944-158923944
CTexonicDe novosynonymous SNVNM_020245c.C3249Tp.Y1083Y-2.0E-4Satterstrom2020 E
TULP4     1-0304-003chr6:
158950970-158950970
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
TULP4     12836.p1chr6:
158735185-158735185
TCexonicMosaicnonsynonymous SNVNM_001007466
NM_020245
c.T137C
c.T137C
p.L46P
p.L46P
21.7-Dou2017 E
Krupp2017 E
TULP4     2-1466-003chr6:
158744424-158744424
GAintronicDe novo--Yuen2016 G
Yuen2017 G
TULP4     AU3763305chr6:
158903093-158903093
GAintronicDe novo--Yuen2017 G
TULP4     11358.p1chr6:
158924672-158924672
TGexonicDe novononsynonymous SNVNM_020245c.T3977Gp.V1326G15.62-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
TULP4     2-1266-003chr6:
158882392-158882392
GAintronicDe novo--Yuen2017 G
TULP4     AU3680302chr6:
158777939-158777939
GAintronicDe novo--Yuen2017 G
TULP4     AU2495302chr6:
158798340-158798340
GCintronicDe 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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