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Results for "TDRD10"

Variant Events: 7

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
TDRD10     mAGRE5095chr1:
154515215-154515215
CTexonicPaternalstopgainNM_001098475
NM_182499
c.C421T
c.C421T
p.Q141X
p.Q141X
39.08.263E-5Cirnigliaro2023 G
TDRD10     14556.p1chr1:
154493911-154493911
CTexonicDe novononsynonymous SNVNM_001098475
NM_182499
c.C325T
c.C325T
p.P109S
p.P109S
19.44-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE
TDRD10     Lim2017:36863chr1:
154493911-154493911
CTexonicDe novononsynonymous SNVNM_001098475
NM_182499
c.C325T
c.C325T
p.P109S
p.P109S
19.44-Lim2017 E
TDRD10     2-0013-003chr1:
154514303-154514303
GTintronicDe novo--Trost2022 G
Yuen2017 G
TDRD10     36863chr1:
154493911-154493911
CTexonicDe novononsynonymous SNVNM_001098475
NM_182499
c.C325T
c.C325T
p.P109S
p.P109S
19.44-Fu2022 E
Trost2022 G
TDRD10     1-0150-004chr1:
154499111-154499111
TTTAintronicDe novo--Trost2022 G
TDRD10     2-0109-003chr1:
154499111-154499111
TTTAintronicDe novo--Trost2022 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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