Variant Results

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Results for "TAS1R2"

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

TAS1R2

2-1315-003

chr1:
19195412-19195412

C

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

TAS1R2

mAGRE5082

chr1:
19184121-19184121

C

A

exonic

Maternal

stopgain

NM_152232

c.G187T

p.E63X

13.83

-

Cirnigliaro2023 G

TAS1R2

Chen2017:25

chr1:
19166809-19166809

G

T

exonic

De novo

nonsynonymous SNV

NM_152232

c.C1804A

p.P602T

15.17

-

Chen2017 E

TAS1R2

mAGRE5042

chr1:
19175895-19175895

G

T

exonic

Paternal

stopgain

NM_152232

c.C1407A

p.Y469X

14.66

Cirnigliaro2023 G

TAS1R2

mAGRE4994

chr1:
19166635-19166635

T

A

exonic

Maternal

stopgain

NM_152232

c.A1978T

p.K660X

32.0

Cirnigliaro2023 G

TAS1R2

200675402@1082034616

chr1:
19166809-19166809

G

T

exonic

De novo

nonsynonymous SNV

NM_152232

c.C1804A

p.P602T

15.17

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TAS1R2

SP0132306

chr1:
19186128-19186128

G

T

exonic

De novo

synonymous SNV

NM_152232

c.C27A

p.S9S

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TAS1R2

1-0271-004

chr1:
19188573-19188573

C

T

intergenic

De novo

-

-

Yuen2017 G

TAS1R2

2-1369-003

chr1:
19172015-19172015

T

G

intronic

De novo

-

-

Yuen2016 G

TAS1R2

1-0382-003

chr1:
19174006-19174006

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TAS1R2

200675402_1082034616

chr1:
19166809-19166809

G

T

exonic

De novo

nonsynonymous SNV

NM_152232

c.C1804A

p.P602T

15.17

-

Fu2022 E

TAS1R2

13945.p1

chr1:
19187497-19187497

C

T

intergenic

De novo

-

-

Werling2018 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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