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Results for "TINAG"

Variant Events: 23

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
TINAG     AU026412chr6:
54403945-54403945
AGintergenicDe novo--Yuen2017 G
TINAG     AU070703chr6:
54254931-54254931
CTUTR3De novo--Yuen2017 G
TINAG     5-0088-003chr6:
54371234-54371234
GAintergenicDe novo--Yuen2017 G
TINAG     AU1987302chr6:
54353134-54353134
GAintergenicDe novo--Yuen2017 G
TINAG     1-0010-005chr6:
54557154-54557166
TATGTACCATGTGTintergenicDe novo--Yuen2017 G
TINAG     2-0208-003chr6:
54557154-54557166
TATGTACCATGTGTintergenicDe novo--Yuen2017 G
TINAG     1-0259-003chr6:
54587074-54587074
CGintergenicDe novo--Yuen2017 G
TINAG     02C09535chr6:
54219267-54219267
AGintronicDe novo--Satterstrom2020 E
TINAG     11012.p1chr6:
54191686-54191686
CTexonicMosaicnonsynonymous SNVNM_014464c.C596Tp.P199L17.460.0984Dou2017 E
TINAG     2-0208-004chr6:
54557154-54557166
TATGTACCATGTGTintergenicDe novo--Yuen2017 G
TINAG     2-1629-003chr6:
54501243-54501243
TAintergenicDe novo--Yuen2017 G
TINAG     2-1207-003chr6:
54274814-54274814
CAintergenicDe novo--Yuen2017 G
TINAG     2-1632-003chr6:
54608815-54608815
CAintergenicDe novo--Yuen2017 G
TINAG     AU4315302chr6:
54296781-54296781
TGintergenicDe novo--Yuen2017 G
TINAG     2-0242-005chr6:
54178865-54178865
GAintronicDe novo--Yuen2017 G
TINAG     2-1265-003chr6:
54474127-54474127
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
TINAG     AU031203chr6:
54176220-54176220
GTintronicDe novo--Yuen2017 G
TINAG     AU3371303chr6:
54649857-54649857
GAintergenicDe novo--Yuen2017 G
TINAG     1-0994-003chr6:
54261169-54261169
GAintergenicDe novo--Yuen2017 G
TINAG     2-1338-003chr6:
54496051-54496051
TCintergenicDe novo--Yuen2017 G
TINAG     AU2793302chr6:
54538292-54538292
TGintergenicDe novo--Yuen2017 G
TINAG     iHART1662chr6:
54245361-54245361
ATexonicPaternalstopgainNM_014464c.A1288Tp.K430X40.02.522E-5Ruzzo2019 G
TINAG     2-1522-003chr6:
54198621-54198621
TCintronicDe novo--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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