Variant Results

or

Results for "TET1"

Variant Events: 13

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

TET1

SP0137285

chr10:
70404915-70404915

A

C

exonic

nonsynonymous SNV

NM_030625

c.A2429C

p.D810A

2.079

-

Zhou2022 GE

TET1

7-0392-005

chr10:
70346907-70346907

T

G

intronic

De novo

-

Trost2022 G

TET1

11242_p1

chr10:
70333978-70333978

A

G

exonic

De novo

nonsynonymous SNV

NM_030625

c.A1883G

p.K628R

15.29

-

Fu2022 E

TET1

MSSNG00367-003

chr10:
70365461-70365461

G

A

intronic

De novo

-

Trost2022 G

TET1

AU4033304

chr10:
70328137-70328137

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TET1

AU4392301

chr10:
70336210-70336210

A

G

intronic

De novo

-

Yuen2017 G

TET1

11242.p1

chr10:
70333978-70333978

A

G

exonic

De novo

nonsynonymous SNV

NM_030625

c.A1883G

p.K628R

15.29

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

TET1

G01-GEA-251-HI

chr10:
70333221-70333221

T

C

exonic

De novo

nonsynonymous SNV

NM_030625

c.T1126C

p.W376R

13.53

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TET1

1-0736-003

chr10:
70448919-70448919

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TET1

SP0118407

chr10:
70332103-70332103

G

A

exonic

De novo

nonsynonymous SNV

NM_030625

c.G8A

p.R3Q

18.67

4.376E-5

Trost2022 G
Zhou2022 GE

TET1

11766.p1

chr10:
70434378-70434378

G

A

intronic

Mosaic

-

Dou2017 E

TET1

EGAN00001101281

chr10:
70332409-70332409

C

T

exonic

De novo

nonsynonymous SNV

NM_030625

c.C314T

p.A105V

18.95

5.768E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TET1

AU3263302

Complex Event; expand row to view variants

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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