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Results for "TTC39A"

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
TTC39A     1-0304-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
TTC39A     AU3343301chr1:
51804021-51804021
GAintronicDe novo--Yuen2017 G
TTC39A     iHART2036chr1:
51753954-51753954
TAsplicingMaternalsplicing24.28.287E-6Ruzzo2019 G
TTC39A     iHART2751chr1:
51754583-51754585
AGGAexonicMaternalframeshift deletionNM_001297667
NM_001297666
NM_001080494
NM_001144832
NM_001297663
NM_001297664
NM_001297665
c.267_268del
c.468_469del
c.1539_1540del
c.1548_1549del
c.1536_1537del
c.1455_1456del
c.1644_1645del
p.A89fs
p.A156fs
p.A513fs
p.A516fs
p.A512fs
p.A485fs
p.A548fs
--Ruzzo2019 G
TTC39A     iHART2039chr1:
51753954-51753954
TAsplicingMaternalsplicing24.28.287E-6Ruzzo2019 G
TTC39A     DEASD_0407_001chr1:
51771704-51771704
TCexonicDe novononsynonymous SNVNM_001080494
NM_001144832
NM_001297662
NM_001297663
NM_001297664
NM_001297665
c.A536G
c.A545G
c.A638G
c.A533G
c.A452G
c.A641G
p.E179G
p.E182G
p.E213G
p.E178G
p.E151G
p.E214G
9.726-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
TTC39A     12185.p1chr1:
51768226-51768226
GAexonicDe novosynonymous SNVNM_001080494
NM_001144832
NM_001297662
NM_001297663
NM_001297664
NM_001297665
c.C786T
c.C795T
c.C888T
c.C783T
c.C702T
c.C891T
p.I262I
p.I265I
p.I296I
p.I261I
p.I234I
p.I297I
-5.795E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
TTC39A     7-0130-003chr1:
51815140-51815140
CAintergenicDe novo--Yuen2017 G
TTC39A     11229.p1chr1:
51770838-51770838
CAintronicDe novo-2.0E-4Satterstrom2020 E
Source Variant Information

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Source:

Paper alias:

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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
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