Variant Results

or

Results for "MTOR"

Variant Events: 30

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

MTOR

5-0147-003

chr1:
11190050-11190050

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MTOR

2-0182-003

chr1:
11288116-11288116

G

A

intronic

De novo

-

Yuen2017 G

MTOR

iHART1624

chr1:
11187739-11187739

G

A

exonic

De novo

nonsynonymous SNV

NM_004958

c.C6158T

p.P2053L

29.9

-

Ruzzo2019 G

MTOR

Mahjani2021:38

Complex Event; expand row to view variants

stopgain, nonsynonymous SNV

NM_004958
NM_004958

c.C6667T
c.A6668T

p.Q2223X
p.Q2223L

48.0

-

Mahjani2021 E
Mahjani2021 E

MTOR

2-1781-003

chr1:
11220025-11220025

A

G

intronic

De novo

-

Trost2022 G

MTOR

7-0222-003

chr1:
11258078-11258078

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MTOR

11104_p1

chr1:
11205057-11205057

T

C

exonic

De novo

nonsynonymous SNV

NM_004958

c.A4732G

p.M1578V

15.88

-

Fu2022 E

MTOR

REACH000713

chr1:
11313760-11313760

T

C

intronic

De novo

-

Trost2022 G

MTOR

2-1491-003

chr1:
11294340-11294340

T

A

intronic

De novo

-

Trost2022 G

MTOR

1-1047-003

chr1:
11318529-11318531

ACT

A

intronic

De novo

-

Trost2022 G

MTOR

mAGRE1624

chr1:
11187739-11187739

G

A

exonic

De novo

nonsynonymous SNV

NM_004958

c.C6158T

p.P2053L

29.9

-

Cirnigliaro2023 G

MTOR

MSSNG00038-003

chr1:
11232694-11232694

G

A

intronic

De novo

-

Trost2022 G

MTOR

1-0844-004

chr1:
11291823-11291823

T

C

intronic

De novo

-

Trost2022 G

MTOR

MT_87.3

chr1:
11283750-11283750

G

C

intronic

De novo

-

Trost2022 G

MTOR

7-0008-003

chr1:
11184585-11184585

T

C

exonic

De novo

nonsynonymous SNV

NM_004958

c.A6632G

p.N2211S

17.53

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

MTOR

SP0108725

chr1:
11182049-11182049

C

T

exonic

De novo

nonsynonymous SNV

NM_004958

c.G6797A

p.R2266H

36.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

MTOR

MT_87.3

chr1:
11269393-11269393

G

A

exonic

De novo

synonymous SNV

NM_004958

c.C3777T

p.H1259H

-

2.471E-5

Trost2022 G
Zhou2022 GE

MTOR

5-5149-003

chr1:
11189846-11189846

A

C

exonic

De novo

nonsynonymous SNV

NM_004958

c.T5663G

p.F1888C

27.3

-

Trost2022 G
Zhou2022 GE

MTOR

More2023:25

chr1:
11272478-11272478

T

C

exonic

Inherited

nonsynonymous SNV

NM_004958

c.A3452G

p.Y1151C

18.6

2.0E-4

More2023 G

MTOR

1-0683-004

chr1:
11243412-11243414

ACT

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MTOR

2-1434-003

chr1:
11225106-11225106

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MTOR

4771021312387-C

chr1:
11273461-11273461

T

C

exonic

De novo

nonsynonymous SNV

NM_004958

c.A3280G

p.I1094V

9.563

-

Fu2022 E

MTOR

SP0076267

chr1:
11303096-11303096

C

T

intronic

De novo

-

Fu2022 E

MTOR

SP0011538

chr1:
11182260-11182260

T

TA

intronic

De novo

-

Fu2022 E

MTOR

2-1276-003

chr1:
11195322-11195322

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MTOR

11104.p1

chr1:
11205057-11205057

T

C

exonic

De novo

nonsynonymous SNV

NM_004958

c.A4732G

p.M1578V

15.88

-

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

MTOR

JASD_Fam0033

chr1:
11316137-11316137

C

T

exonic

De novo

nonsynonymous SNV

NM_004958

c.G617A

p.R206H

20.2

-

Takata2018 E

MTOR

SP0052336

chr1:
11316946-11316946

A

G

intronic

De novo

-

Fu2022 E
Trost2022 G

MTOR

Miyake2023:16765

chr1:
11316137-11316137

C

T

exonic

De novo

nonsynonymous SNV

NM_004958

c.G617A

p.R206H

20.2

-

Miyake2023 E

MTOR

5-0030-003

chr1:
11261333-11261339

GATAACA

G

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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