Variant Results

or

Results for "FXR1"

Variant Events: 11

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

FXR1

7-0082-003

chr3:
180637362-180637362

G

GCGC

intronic

De novo

-

Trost2022 G
Yuen2017 G

FXR1

4-0046-003

chr3:
180690859-180690859

C

T

intronic

De novo

-

Trost2022 G

FXR1

2-1800-003

chr3:
180630108-180630108

G

C

upstream

De novo

-

Trost2022 G

FXR1

19275-30820

chr3:
180680833-180680833

G

A

exonic

nonsynonymous SNV

NM_001013438
NM_005087
NM_001013439

c.G1153A
c.G1153A
c.G898A

p.G385R
p.G385R
p.G300R

18.87

-

Callaghan2019 G

FXR1

3-0161-000

chr3:
180665268-180665268

C

T

intronic

De novo

-

Trost2022 G

FXR1

2-1163-003

chr3:
180690823-180690823

A

G

intronic

De novo

-

Yuen2017 G

FXR1

SP0041146

chr3:
180680884-180680890

AAAAAAT

A

intronic

De novo

-

Fu2022 E

FXR1

AU2109302

chr3:
180670179-180670179

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FXR1

DEASD_0184_001

chr3:
180680884-180680891

AAAAAATT

A

intronic

De novo

-

4.245E-5

Fu2022 E

FXR1

003-05-102508

chr3:
180652983-180652983

T

C

exonic

De novo

synonymous SNV

NM_001013438
NM_005087

c.T162C
c.T162C

p.D54D
p.D54D

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

FXR1

11730.p1

chr3:
180665712-180665712

G

A

exonic

Mosaic

nonsynonymous SNV

NM_001013438
NM_005087
NM_001013439

c.G258A
c.G258A
c.G3A

p.M86I
p.M86I
p.M1I

21.6

-

Dou2017 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 notes	View
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