or
or
Exact

Results for "TXNDC11"

Variant Events: 18

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
TXNDC11     AU000704chr16:
11796052-11796052
GAintronicDe novo--Trost2022 G
TXNDC11     7-0390-003chr16:
11822384-11822384
CTintronicDe novo--Trost2022 G
TXNDC11     SMHC00847s000chr16:
11824525-11824525
TAexonicDe novononsynonymous SNVNM_001303447
NM_015914
c.A675T
c.A675T
p.L225F
p.L225F
17.77-Yuan2023 E
TXNDC11     REACH000316chr16:
11773483-11773483
GAexonicDe novosynonymous SNVNM_015914
NM_001303447
c.C2445T
c.C2526T
p.S815S
p.S842S
--Trost2022 G
Trost2022 G
Zhou2022 GE
TXNDC11     MSSNG00391-003chr16:
11782649-11782649
AGintronicDe novo--Trost2022 G
TXNDC11     TAS_F4013Ychr16:
11824537-11824537
ATexonicDe novosynonymous SNVNM_001303447
NM_015914
c.T663A
c.T663A
p.S221S
p.S221S
--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TXNDC11     7-0374-003chr16:
11786452-11786452
AGintronicDe novo--Trost2022 G
TXNDC11     3-0419-000chr16:
11776362-11776362
GAintronicDe novo--Trost2022 G
TXNDC11     mAGRE4885chr16:
11815487-11815487
GAexonicMaternalstopgainNM_001303447
NM_015914
c.C739T
c.C739T
p.Q247X
p.Q247X
38.0-Cirnigliaro2023 G
TXNDC11     11572.p1chr16:
11797561-11797561
CTexonicnonsynonymous SNVNM_001303447c.G839Ap.G280E18.78-Zhou2022 GE
TXNDC11     MSSNG00343-004chr16:
11779316-11779316
GAintronicDe novo--Trost2022 G
TXNDC11     AU024607chr16:
11793316-11793316
CAintronicDe novo--Trost2022 G
Yuen2017 G
TXNDC11     AU4089301chr16:
11780834-11780834
AGintronicDe novo--Trost2022 G
Yuen2017 G
TXNDC11     2H596chr16:
11829984-11829984
GAexonicDe novosynonymous SNVNM_001303447
NM_015914
c.C360T
c.C360T
p.Y120Y
p.Y120Y
-8.24E-6Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
TXNDC11     1-0677-003chr16:
11837532-11837532
GAupstreamDe novo--Trost2022 G
Yuen2017 G
TXNDC11     A22chr16:
11820583-11820583
GAintronicDe novo--Wu2018 G
TXNDC11     AU3794301chr16:
11830268-11830268
TCintronicDe novo--Trost2022 G
Yuen2017 G
TXNDC11     Wang2023:847chr16:
11824525-11824525
TAexonicDe novononsynonymous SNVNM_001303447
NM_015914
c.A675T
c.A675T
p.L225F
p.L225F
17.77-Wang2023 E
Source Variant Information

, -

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
More