Variant Results

or

or

Results for "TPST1"

Variant Events: 19

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

TPST1

2-1723-003

chr7:
65777883-65777884

GT

AC

intronic

De novo

-

-

Trost2022 G

TPST1

2-1760-003

chr7:
65798991-65798991

G

A

intronic

De novo

-

-

Trost2022 G

TPST1

1-0138-003

chr7:
65733114-65733114

A

T

intronic

De novo

-

-

Trost2022 G

TPST1

5-2005-003

chr7:
65751090-65751090

A

G

intronic

De novo

-

-

Trost2022 G

TPST1

1-1120-003

chr7:
65706016-65706016

G

A

exonic

De novo

nonsynonymous SNV

NM_003596

c.G604A

p.G202R

25.1

-

Trost2022 G
Zhou2022 GE

TPST1

REACH000705

chr7:
65701474-65701474

T

C

intronic

De novo

-

-

Trost2022 G

TPST1

3-0095-000

chr7:
65717473-65717473

C

T

intronic

De novo

-

-

Trost2022 G

TPST1

MSSNG00004-003

chr7:
65682828-65682828

C

T

intronic

De novo

-

-

Trost2022 G

TPST1

AU4264302

chr7:
65770253-65770253

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TPST1

SSC00592

chr7:
65705515-65705515

A

G

exonic

De novo

nonsynonymous SNV

NM_003596

c.A103G

p.I35V

12.78

-

Fu2022 E
Trost2022 G

TPST1

11089.p1

chr7:
65682581-65682581

G

A

intronic

De novo

-

-

Turner2016 G

TPST1

10-0008-003

chr7:
65806962-65806964

CAA

C

intronic

De novo

-

-

Trost2022 G

TPST1

REACH000754

chr7:
65813400-65813404

GTGAT

G

intronic

De novo

-

-

Trost2022 G

TPST1

11441.p1

chr7:
65705515-65705515

A

G

exonic

Mosaic, De novo

nonsynonymous SNV

NM_003596

c.A103G

p.I35V

12.78

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

TPST1

AU1987301

chr7:
65835223-65835223

C

T

intergenic

De novo

-

-

Yuen2017 G

TPST1

2-0142-004

chr7:
65718101-65718101

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TPST1

SP0043703

chr7:
65706273-65706273

G

T

intronic

De novo

-

-

Fu2022 E
Trost2022 G

TPST1

AU3605304

chr7:
65712954-65712954

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TPST1

AU3703302

chr7:
65824624-65824624

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 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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