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Results for "TTC39C"

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
TTC39C     5-1007-003chr18:
21682473-21682473
GAintronicDe novo--Trost2022 G
TTC39C     AU3912301chr18:
21705005-21705005
TCintronicDe novo--Trost2022 G
Yuen2017 G
TTC39C     5-1004-003Achr18:
21683175-21683175
GAintronicDe novo--Trost2022 G
TTC39C     3-0102-000chr18:
21669452-21669452
AGintronicDe novo--Trost2022 G
TTC39C     5-0038-003chr18:
21677327-21677328
TGTintronicDe novo--Trost2022 G
TTC39C     1-0210-004chr18:
21657612-21657612
GTintronicDe novo--Trost2022 G
Yuen2017 G
TTC39C     1-0388-003chr18:
21656063-21656063
CTintronicDe novo--Yuen2017 G
TTC39C     AU4260303chr18:
21697918-21697918
TCintronicDe novo--Trost2022 G
Yuen2017 G
TTC39C     DEASD_4037_001chr18:
21645940-21645940
AAATTCintronicDe novo-3.493E-5Fu2022 E
TTC39C     mAGRE4627chr18:
21705451-21705451
GGTGTTexonicMaternalframeshift insertionNM_001292030
NM_001135993
NM_153211
c.436_437insTGTT
c.1357_1358insTGTT
c.1174_1175insTGTT
p.V146fs
p.V453fs
p.V392fs
--Cirnigliaro2023 G
TTC39C     74-0115chr18:
21635211-21635211
GAintronicDe novo--Michaelson2012 G
TTC39C     3-0176-000chr18:
21683879-21683879
CTintronicDe novo--Trost2022 G
TTC39C     AU4176302chr18:
21656234-21656234
GAintronicDe novo--Yuen2017 G
TTC39C     MSSNG00421-009chr18:
21700565-21700565
ACintronicDe novo--Trost2022 G
TTC39C     3-0169-000chr18:
21619851-21619851
GAintronicDe novo--Trost2022 G
Yuen2016 G
TTC39C     340-09-111760chr18:
21594920-21594920
GTexonicDe novononsynonymous SNVNM_001135993
NM_001243425
c.G85T
c.G85T
p.D29Y
p.D29Y
15.51-Fu2022 E
TTC39C     1-0406-003chr18:
21655527-21655527
AGintronicDe novo--Trost2022 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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