Variant Results

or

Results for "MYO1E"

Variant Events: 50

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

MYO1E

MSSNG00032-003

chr15:
59598701-59598701

G

A

intronic

De novo

-

Trost2022 G

MYO1E

REACH000323

chr15:
59628656-59628656

C

T

intronic

De novo

-

Trost2022 G

MYO1E

7-0427-003

chr15:
59587572-59587572

T

C

intronic

De novo

-

Trost2022 G

MYO1E

mAGRE1568

chr15:
59519791-59519791

T

C

splicing

Maternal

splicing

19.21

-

Cirnigliaro2023 G

MYO1E

1-0555-003

chr15:
59464993-59464993

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYO1E

3-0078-000

chr15:
59590747-59590747

C

T

intronic

De novo

-

Trost2022 G

MYO1E

MSSNG00131-003

chr15:
59561287-59561287

G

A

intronic

De novo

-

Trost2022 G

MYO1E

2-1818-003

chr15:
59566040-59566040

G

A

intronic

De novo

-

Trost2022 G

MYO1E

2-0215-003

chr15:
59528371-59528371

G

A

intronic

De novo

-

Trost2022 G

MYO1E

7-0483-003

chr15:
59560305-59560305

T

C

intronic

De novo

-

Trost2022 G

MYO1E

1-0885-003

chr15:
59674330-59674330

C

T

intergenic

De novo

-

Yuen2017 G

MYO1E

7-0470-003

chr15:
59647246-59647246

G

A

intronic

De novo

-

Trost2022 G

MYO1E

1-0126-004

chr15:
59480414-59480414

C

G

exonic

De novo

nonsynonymous SNV

NM_004998

c.G1807C

p.V603L

32.0

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

MYO1E

AU1635302

chr15:
59432601-59432601

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYO1E

iHART1568

chr15:
59519791-59519791

T

C

splicing

Maternal

splicing

19.21

-

Ruzzo2019 G

MYO1E

NDAR_INVUZ464WLX_wes1

chr15:
59497733-59497733

A

C

intronic

De novo

-

2.0E-4

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

MYO1E

36058

chr15:
59506918-59506918

G

C

exonic

De novo

nonsynonymous SNV

NM_004998

c.C1109G

p.S370C

14.8

-

Fu2022 E
Trost2022 G

MYO1E

NDAR_INVYN810UMB_wes1

chr15:
59497733-59497733

A

C

intronic

De novo

-

2.0E-4

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

MYO1E

2-1352-003

chr15:
59485333-59485333

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

MYO1E

3-0065-000

chr15:
59464117-59464117

C

T

exonic

De novo

nonsynonymous SNV

NM_004998

c.G2459A

p.R820Q

11.9

2.471E-5

Trost2022 G
Yuen2017 G
Zhou2022 GE

MYO1E

AU4235303

chr15:
59439103-59439103

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYO1E

2-1265-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

MYO1E

200675669_1082035054

chr15:
59487682-59487682

G

A

exonic

De novo

nonsynonymous SNV

NM_004998

c.C1783T

p.P595S

16.31

-

Fu2022 E

MYO1E

68631

chr15:
59430484-59430484

G

A

exonic

De novo

stopgain

NM_004998

c.C3163T

p.Q1055X

45.0

-

Fu2022 E
Trost2022 G

MYO1E

5-0140-003

chr15:
59623258-59623258

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYO1E

SP0144484

chr15:
59500814-59500814

T

G

intronic

De novo

-

Fu2022 E

MYO1E

Chen2017:102

chr15:
59487682-59487682

G

A

exonic

De novo

nonsynonymous SNV

NM_004998

c.C1783T

p.P595S

16.31

-

Chen2017 E

MYO1E

2-0273-003

chr15:
59593113-59593113

C

CTAGA

intronic

De novo

-

Yuen2017 G

MYO1E

11577.p1

chr15:
59430484-59430484

G

A

exonic

De novo

stopgain

NM_004998

c.C3163T

p.Q1055X

45.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

MYO1E

14248.p1

chr15:
59506918-59506918

G

C

exonic

De novo

nonsynonymous SNV

NM_004998

c.C1109G

p.S370C

14.8

-

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

MYO1E

13910.p1

chr15:
59516914-59516914

C

T

exonic

Mosaic, De novo

nonsynonymous SNV

NM_004998

c.G751A

p.D251N

35.0

1.648E-5

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Turner2017 G
Zhou2022 GE

MYO1E

AU3053301

chr15:
59671384-59671384

A

G

intergenic

De novo

-

Yuen2017 G

MYO1E

2-1146-003

chr15:
59663897-59663897

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYO1E

2-1689-003

chr15:
59533537-59533537

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYO1E

08C76039

chr15:
59466149-59466149

A

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

MYO1E

SX0028.p1

chr15:
59464193-59464193

C

T

exonic

Unknown

nonsynonymous SNV

NM_004998

c.G2383A

p.G795R

31.0

5.0E-4

Guo2018 T

MYO1E

AU1860302

chr15:
59482333-59482333

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYO1E

2-1264-003

chr15:
59519483-59519483

G

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

MYO1E

2-0007-004

chr15:
59675091-59675091

C

T

intergenic

De novo

-

Yuen2017 G

MYO1E

AU3053302

chr15:
59472675-59472675

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYO1E

80001102148

chr15:
59466355-59466355

G

A

exonic

De novo

nonsynonymous SNV

NM_004998

c.C2134T

p.R712W

18.24

8.241E-6

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MYO1E

A16

chr15:
59678397-59678406

ATTCCATCTC

A

intergenic

De novo

-

Wu2018 G

MYO1E

AU4378301

chr15:
59579145-59579145

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MYO1E

MSSNG00049-003

chr15:
59522846-59522846

G

C

intronic

De novo

-

Trost2022 G

MYO1E

MSSNG00434-003

chr15:
59525529-59525529

C

T

intronic

De novo

-

Trost2022 G

MYO1E

1-1005-005A

chr15:
59481995-59481995

C

T

intronic

De novo

-

Trost2022 G

MYO1E

3-0467-000

chr15:
59509438-59509438

T

C

intronic

De novo

-

Trost2022 G

MYO1E

2-1286-003

chr15:
59458225-59458226

TA

AT

intronic

De novo

-

Trost2022 G

MYO1E

Lim2017:68631

chr15:
59430484-59430484

G

A

exonic

De novo

stopgain

NM_004998

c.C3163T

p.Q1055X

45.0

-

Lim2017 E

MYO1E

1-0452-005

chr15:
59461370-59461370

T

C

intronic

De novo

-

Trost2022 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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