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Results for "TTC3"

Variant Events: 17

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
TTC3     iHART2468chr21:
38463698-38463703
ATTTTCAexonicPaternalframeshift deletionNM_001001894
NM_003316
c.587_591del
c.587_591del
p.I196fs
p.I196fs
--Ruzzo2019 G
TTC3     1-0597-003chr21:
38470570-38470570
GTintronicDe novo--Yuen2017 G
TTC3     AU3809302chr21:
38510064-38510064
TCintronicDe novo--Yuen2017 G
TTC3     1-0400-003chr21:
38536170-38536170
GTintronicDe novo--Yuen2016 G
Yuen2017 G
TTC3     2-1176-003chr21:
38556813-38556813
AGintronicDe novo--Yuen2017 G
TTC3     PN400102chr21:
38529482-38529482
GAintronicUnknown14.170.0081Leblond2019 E
TTC3     PN400470chr21:
38529482-38529482
GAintronicUnknown14.170.0081Leblond2019 E
TTC3     13323.p1chr21:
38567961-38567961
GAintronicDe novo--Krumm2015 E
Satterstrom2020 E
TTC3     AU3811305chr21:
38471811-38471811
GAintronicDe novo--Yuen2017 G
TTC3     PN400157chr21:
38529482-38529482
GAintronicUnknown14.170.0081Leblond2019 E
TTC3     PN400267chr21:
38529482-38529482
GAintronicUnknown14.170.0081Leblond2019 E
TTC3     PN400431chr21:
38529482-38529482
GAintronicUnknown14.170.0081Leblond2019 E
TTC3     AU065807chr21:
38574604-38574604
CAUTR3De novo--Yuen2017 G
TTC3     1-0092-003chr21:
38566231-38566231
GTintronicDe novo--Yuen2017 G
TTC3     PN400287chr21:
38529482-38529482
GAintronicUnknown14.170.0081Leblond2019 E
TTC3     PN400576chr21:
38529482-38529482
GAintronicUnknown14.170.0081Leblond2019 E
TTC3     08C72821chr21:
38568287-38568287
GAexonicDe novosynonymous SNVNM_001001894
NM_003316
c.G5529A
c.G5529A
p.P1843P
p.P1843P
3.4848.268E-6Satterstrom2020 E
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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