Variant Results

or

Results for "MYO15A"

Variant Events: 25

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

MYO15A

11494.p1

chr17:
18039050-18039050

T

C

exonic

Mosaic

nonsynonymous SNV

NM_016239

c.T4508C

p.V1503A

21.6

-

Krupp2017 E

MYO15A

021-07-107622

chr17:
18039094-18039094

A

G

exonic

De novo

nonsynonymous SNV

NM_016239

c.A4552G

p.I1518V

8.066

1.693E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MYO15A

SP0100444

chr17:
18071007-18071007

G

A

exonic

De novo

nonsynonymous SNV

NM_016239

c.G10052A

p.R3351H

17.75

1.689E-5

Fu2022 E
Zhou2022 GE

MYO15A

SP0077034

chr17:
18044112-18044112

T

C

exonic

De novo

nonsynonymous SNV

NM_016239

c.T5372C

p.L1791S

9.265

-

Fu2022 E
Zhou2022 GE

MYO15A

iHART3105

chr17:
18025499-18025499

C

T

exonic

Paternal

stopgain

NM_016239

c.C3385T

p.R1129X

42.0

5.85E-5

Ruzzo2019 G

MYO15A

iHART3103

chr17:
18025499-18025499

C

T

exonic

Paternal

stopgain

NM_016239

c.C3385T

p.R1129X

42.0

5.85E-5

Ruzzo2019 G

MYO15A

iHART1908

chr17:
18054532-18054532

A

T

exonic

Maternal

stopgain

NM_016239

c.A7582T

p.K2528X

50.0

-

Ruzzo2019 G

MYO15A

mAGRE3103

chr17:
18025499-18025499

C

T

exonic

Paternal

stopgain

NM_016239

c.C3385T

p.R1129X

42.0

5.85E-5

Cirnigliaro2023 G

MYO15A

SP0063700

chr17:
18077133-18077133

G

A

exonic

De novo

synonymous SNV

NM_016239

c.G10389A

p.S3463S

-

Fu2022 E
Zhou2022 GE

MYO15A

1-0286-003

chr17:
18049226-18049226

G

A

exonic

De novo

nonsynonymous SNV

NM_016239

c.G6314A

p.R2105Q

1.916

2.556E-5

Yuen2015 G

MYO15A

SP0034309

chr17:
18045009-18045009

T

C

exonic

De novo

synonymous SNV

NM_016239

c.T5574C

p.N1858N

-

Fu2022 E
Zhou2022 GE

MYO15A

SP0022669

chr17:
18025668-18025668

G

A

exonic

De novo

nonsynonymous SNV

NM_016239

c.G3554A

p.C1185Y

10.08

-

Feliciano2019 E
Fu2022 E
Zhou2022 GE

MYO15A

7-0191-003

chr17:
18076761-18076761

A

G

intronic

De novo

-

Yuen2017 G

MYO15A

SAGA-96

chr17:
18058028-18058028

G

A

exonic

nonsynonymous SNV

NM_016239

c.G8183A

p.R2728H

26.9

2.0E-4

Doan2019 E

MYO15A

mAGRE4703

chr17:
18082163-18082164

CA

C

exonic

Paternal

frameshift deletion

NM_016239

c.10573delA

p.S3525fs

-

Cirnigliaro2023 G

MYO15A

mAGRE4702

chr17:
18082163-18082164

CA

C

exonic

Paternal

frameshift deletion

NM_016239

c.10573delA

p.S3525fs

-

Cirnigliaro2023 G

MYO15A

11693.p1

chr17:
18039965-18039965

C

G

exonic

De novo

nonsynonymous SNV

NM_016239

c.C4744G

p.L1582V

11.07

-

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

MYO15A

SAGA-96

chr17:
18044441-18044441

C

T

exonic

stopgain

NM_016239

c.C5515T

p.Q1839X

46.0

1.0E-4

Doan2019 E

MYO15A

mAGRE1908

chr17:
18054532-18054532

A

T

exonic

Maternal

stopgain

NM_016239

c.A7582T

p.K2528X

50.0

-

Cirnigliaro2023 G

MYO15A

AU2023302

chr17:
18026910-18026910

G

A

intronic

De novo

-

Yuen2017 G

MYO15A

mAGRE3105

chr17:
18025499-18025499

C

T

exonic

Paternal

stopgain

NM_016239

c.C3385T

p.R1129X

42.0

5.85E-5

Cirnigliaro2023 G

MYO15A

AC02-1113-01

chr17:
18047280-18047280

A

G

exonic

De novo

nonsynonymous SNV

NM_016239

c.A6143G

p.Y2048C

14.07

-

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MYO15A

SSC03418

chr17:
18039965-18039965

C

G

exonic

De novo

nonsynonymous SNV

NM_016239

c.C4744G

p.L1582V

11.07

-

Fu2022 E
Lim2017 E
Trost2022 G

MYO15A

SP0019630

chr17:
18039887-18039887

G

A

exonic

De novo

nonsynonymous SNV

NM_016239

c.G4666A

p.A1556T

28.3

3.322E-5

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

MYO15A

1335011

chr17:
18036528-18036528

C

T

intronic

De novo

-

Satterstrom2020 E
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
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