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Results for "TTLL3"

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
TTLL3     AU2129303chr3:
9871080-9871080
GAsplicingMaternalsplicing16.48-Cirnigliaro2023 G
TTLL3     DEASD_0382_001chr3:
9854936-9854936
TAexonicDe novononsynonymous SNVNM_001025930
NM_001198793
c.T651A
c.T504A
p.D217E
p.D168E
10.67-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TTLL3     1000209656838568-Cchr3:
9876996-9876996
CTexonicDe novosynonymous SNVNM_001025930c.C2571Tp.G857G--Fu2022 E
TTLL3     AU2129301chr3:
9871080-9871080
GAsplicingMaternalsplicing16.48-Cirnigliaro2023 G
TTLL3     DEASD_0086_001chr3:
9870673-9870673
ACexonicDe novononsynonymous SNVNM_001025930
NM_001198793
c.A1577C
c.A1331C
p.Q526P
p.Q444P
19.01-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Zhou2022 GE
TTLL3     mAGRE6021chr3:
9867629-9867629
CTexonicMaternalstopgainNM_001025930
NM_001198793
c.C1300T
c.C1054T
p.R434X
p.R352X
37.02.522E-5Cirnigliaro2023 G
TTLL3     08C77878chr3:
9871026-9871026
CTexonicDe novononsynonymous SNVNM_001025930
NM_001198793
c.C1930T
c.C1684T
p.R644W
p.R562W
16.672.0E-4DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TTLL3     AU3302302chr3:
9867629-9867629
CTexonicMaternalstopgainNM_001025930
NM_001198793
c.C1300T
c.C1054T
p.R434X
p.R352X
37.02.522E-5Cirnigliaro2023 G
TTLL3     MCD-008-3chr3:
9876839-9876839
TGexonicDe novononsynonymous SNVNM_001025930c.T2414Gp.L805W10.42-Tuncay2023 G
TTLL3     SP0018108chr3:
9869007-9869007
CAintronicDe novo--Trost2022 G
Trost2022 G
TTLL3     JASD_Fam0008chr3:
9870992-9870992
CTexonicDe novosynonymous SNVNM_001025930
NM_001198793
c.C1896T
c.C1650T
p.G632G
p.G550G
4.465-Takata2018 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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