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Results for "TSHR"

Variant Events: 15

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
TSHR     2-0286-003chr14:
81611893-81611893
CTUTR3De novo--Yuen2017 G
TSHR     2-0318-003chr14:
81497094-81497094
GAintronicDe novo--Yuen2017 G
TSHR     2-1408-003chr14:
81437243-81437243
AGintronicDe novo--Yuen2017 G
TSHR     20-1301909-05chr14:
81574991-81574991
CTexonicDe novononsynonymous SNVNM_001018036
NM_001142626
c.C728T
c.C791T
p.T243I
p.T264I
12.24-Satterstrom2020 E
TSHR     2-1380-003chr14:
81449061-81449061
CTintronicDe novo--Yuen2016 G
Yuen2017 G
TSHR     SP0008212chr14:
81610383-81610383
AGexonicMosaicnonsynonymous SNVNM_000369c.A1981Gp.I661V11.07-Feliciano2019 E
TSHR     2-1734-003chr14:
81427248-81427248
GAintronicDe novo--Yuen2017 G
TSHR     AU1795303chr14:
81585610-81585610
TCintronicDe novo--Yuen2017 G
TSHR     2-1368-003chr14:
81543369-81543386
TTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTintronicDe novo--Yuen2017 G
TSHR     AU4028302chr14:
81503065-81503065
AGintronicDe novo--Yuen2017 G
TSHR     AU011604chr14:
81475477-81475477
GAintronicDe novo--Yuen2017 G
TSHR     7-0168-003chr14:
81581160-81581160
CTintronicDe novo--Yuen2017 G
TSHR     AU4234302chr14:
81508530-81508534
CTTTTCTTTintronicDe novo--Yuen2017 G
TSHR     AU056604chr14:
81613320-81613320
ACdownstreamDe novo--Yuen2017 G
TSHR     iHART1108chr14:
81610620-81610620
GTexonicPaternalstopgainNM_000369c.G2218Tp.E740X37.0-Ruzzo2019 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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