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Results for "TTBK2"

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
TTBK2     1-0965-003chr15:
43124376-43124376
CTintronicDe novo--Yuen2017 G
TTBK2     2-1434-003chr15:
43043752-43043752
TCintronicDe novo--Yuen2016 G
Yuen2017 G
TTBK2     1-0490-003chr15:
43094104-43094104
ACintronicDe novo0.019-Yuen2017 G
TTBK2     AU2485305chr15:
43114794-43114795
AGAGGintronicDe novo--Yuen2017 G
TTBK2     2-1460-003chr15:
43218940-43218944
CTGTGCTGintergenicDe novo--Yuen2017 G
TTBK2     5-0083-003chr15:
43052601-43052602
ACAintronicDe novo--Yuen2017 G
TTBK2     AU4152303chr15:
43154375-43154375
CTintronicDe novo--Yuen2017 G
TTBK2     iHART2748chr15:
43069317-43069317
GAexonicPaternalstopgainNM_173500c.C1321Tp.R441X38.08.294E-6Ruzzo2019 G
TTBK2     AU3905302chr15:
43127837-43127837
ATintronicDe novo--Yuen2017 G
TTBK2     1-0384-003chr15:
43054265-43054265
GAintronicDe novo--Yuen2017 G
TTBK2     1-0138-004chr15:
43088524-43088524
CTintronicDe 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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