Variant Results

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Results for "THRA"

Variant Events: 12

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

THRA

MSSNG00095-003

chr17:
38243311-38243315

GACAC

G

intronic

De novo

-

-

Trost2022 G

THRA

REACH000544

chr17:
38235275-38235275

G

A

intronic

De novo

-

-

Trost2022 G

THRA

MSSNG00256-004

chr17:
38241982-38241982

T

C

intronic

De novo

-

-

Trost2022 G

THRA

7-0361-003

chr17:
38230879-38230879

T

C

intronic

De novo

-

-

Trost2022 G

THRA

MSSNG00020-004

chr17:
38232817-38232817

G

T

intronic

De novo

-

-

Trost2022 G

THRA

GM182701

chr17:
38241019-38241019

G

A

exonic

De novo

nonsynonymous SNV

NM_001190918
NM_001190919
NM_003250
NM_199334

c.G527A
c.G527A
c.G527A
c.G527A

p.R176H
p.R176H
p.R176H
p.R176H

15.45

-

Fu2022 E

THRA

SP0014959

chr17:
38249558-38249558

G

GA

exonic

Inherited

frameshift insertion

NM_001190918
NM_001190919
NM_003250

c.1280dupA
c.1397dupA
c.1397dupA

p.E427fs
p.E466fs
p.E466fs

-

-

Feliciano2019 E

THRA

1-0273-003

chr17:
38245626-38245626

C

T

exonic

De novo

nonsynonymous SNV

NM_199334

c.C1150T

p.R384C

22.0

-

Yuen2015 G
Zhou2022 GE

THRA

SP0019543

chr17:
38230708-38230708

G

A

UTR5

De novo

-

Fu2022 E
Trost2022 G

THRA

mAGRE2310

chr17:
38233123-38233123

G

A

splicing

Paternal

splicing

16.64

Cirnigliaro2023 G

THRA

iHART2310

chr17:
38233123-38233123

G

A

splicing

Paternal

splicing

16.64

Ruzzo2019 G

THRA

346-09-111764

chr17:
38244447-38244447

C

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

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 notes	View
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