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Results for "TDRD6"

Variant Events: 19

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
TDRD6     2-0003-003chr6:
46667993-46667993
GAintronicDe novo--Yuen2017 G
TDRD6     Wang2023:878chr6:
46658935-46658935
AGexonicDe novononsynonymous SNVNM_001010870
NM_001168359
c.A3070G
c.A3070G
p.K1024E
p.K1024E
8.115-Wang2023 E
TDRD6     SP0067003chr6:
46661910-46661910
ACexonicDe novosynonymous SNVNM_001010870
NM_001168359
c.A6045C
c.A6045C
p.S2015S
p.S2015S
2.178-Trost2022 G
TDRD6     1-0654-003chr6:
46667188-46667188
CTintronicDe novo--Trost2022 G
TDRD6     2-0003-004chr6:
46667993-46667993
GAintronicDe novo--Yuen2017 G
TDRD6     mAGRE2298chr6:
46658550-46658554
CTTTGCexonicPaternalframeshift deletionNM_001010870
NM_001168359
c.2686_2689del
c.2686_2689del
p.F896fs
p.F896fs
-3.327E-5Cirnigliaro2023 G
TDRD6     iHART3101chr6:
46665818-46665819
ACAexonicMaternalframeshift deletionNM_001010870c.6256delCp.P2086fs--Ruzzo2019 G
TDRD6     iHART2298chr6:
46658550-46658554
CTTTGCexonicPaternalframeshift deletionNM_001010870
NM_001168359
c.2686_2689del
c.2686_2689del
p.F896fs
p.F896fs
-3.327E-5Ruzzo2019 G
TDRD6     iHART3100chr6:
46665818-46665819
ACAexonicMaternalframeshift deletionNM_001010870c.6256delCp.P2086fs--Ruzzo2019 G
TDRD6     08C76605chr6:
46656026-46656026
CTexonicDe novononsynonymous SNVNM_001010870
NM_001168359
c.C161T
c.C161T
p.A54V
p.A54V
13.69-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TDRD6     36950chr6:
46661295-46661295
AGexonicDe novosynonymous SNVNM_001010870
NM_001168359
c.A5430G
c.A5430G
p.K1810K
p.K1810K
--Fu2022 E
Trost2022 G
TDRD6     iHART1252chr6:
46660302-46660304
CAGCexonicMaternalframeshift deletionNM_001010870
NM_001168359
c.4438_4439del
c.4438_4439del
p.S1480fs
p.S1480fs
-3.317E-5Ruzzo2019 G
TDRD6     2-1426-003chr6:
46663331-46663331
GTintronicDe novo--Trost2022 G
Yuen2017 G
TDRD6     mAGRE3101chr6:
46665818-46665819
ACAexonicMaternalframeshift deletionNM_001010870c.6256delCp.P2086fs--Cirnigliaro2023 G
TDRD6     mAGRE3100chr6:
46665818-46665819
ACAexonicMaternalframeshift deletionNM_001010870c.6256delCp.P2086fs--Cirnigliaro2023 G
TDRD6     14591.p1chr6:
46661295-46661295
AGexonicDe novosynonymous SNVNM_001010870
NM_001168359
c.A5430G
c.A5430G
p.K1810K
p.K1810K
--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
TDRD6     mAGRE1252chr6:
46660302-46660304
CAGCexonicMaternalframeshift deletionNM_001010870
NM_001168359
c.4438_4439del
c.4438_4439del
p.S1480fs
p.S1480fs
-3.317E-5Cirnigliaro2023 G
TDRD6     Lim2017:36950chr6:
46661295-46661295
AGexonicDe novosynonymous SNVNM_001010870
NM_001168359
c.A5430G
c.A5430G
p.K1810K
p.K1810K
--Lim2017 E
TDRD6     SMHC02027s000chr6:
46660526-46660526
CGexonicDe novononsynonymous SNVNM_001010870
NM_001168359
c.C4661G
c.C4661G
p.A1554G
p.A1554G
17.1-Yuan2023 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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