Variant Results

or

or

Results for "MYO7A"

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

MYO7A

1-0339-003

chr11:
76889405-76889405

C

CCTAT

intronic

De novo

-

-

Yuen2017 G

MYO7A

13946.p1

chr11:
76857774-76857774

C

A

intronic

De novo

-

-

Turner2016 G

MYO7A

1-0458-003

chr11:
76889400-76889400

A

ATCCATCCATCCG

intronic

De novo

-

-

Yuen2017 G

MYO7A

2-0006-004

chr11:
76889401-76889401

C

CCTAT

intronic

De novo

-

-

Yuen2017 G

MYO7A

2-1093-009

chr11:
76889440-76889440

A

AT

intronic

De novo

-

-

Yuen2017 G

MYO7A

5-0003-003

chr11:
76889437-76889437

T

TCCGC

intronic

De novo

-

-

Yuen2017 G

MYO7A

1-0300-004

chr11:
76889357-76889357

A

AT

intronic

De novo

-

-

Yuen2017 G

MYO7A

12462.p1

chr11:
76925750-76925750

G

A

UTR3

De novo

-

-

Krumm2015 E

MYO7A

2-0208-003

chr11:
76889461-76889461

T

TTCAC

intronic

De novo

-

-

Yuen2017 G

MYO7A

13613.p1

chr11:
76869496-76869496

G

A

intronic

De novo

-

Krumm2015 E

MYO7A

Shi2013:2

chr11:
76909548-76909548

C

A

exonic

Inherited

nonsynonymous SNV

NM_000260
NM_001127180

c.C4450A
c.C4450A

p.L1484I
p.L1484I

22.1

Shi2013 G

MYO7A

2-1066-003

chr11:
76889401-76889401

C

CCTCACCCAT

intronic

De novo

-

-

Yuen2017 G

MYO7A

SP0009922

chr11:
76871202-76871202

G

A

intronic

De novo

-

-

Fu2022 E

MYO7A

5-0004-003

chr11:
76889396-76889396

A

ATCCATCCATCCATCCG

intronic

De novo

-

-

Yuen2017 G

MYO7A

Shi2013:1

chr11:
76909548-76909548

C

A

exonic

Inherited

nonsynonymous SNV

NM_000260
NM_001127180

c.C4450A
c.C4450A

p.L1484I
p.L1484I

22.1

Shi2013 G

MYO7A

428-05-103614

chr11:
76870580-76870580

G

C

intronic

De novo

-

-

Satterstrom2020 E

MYO7A

08C75919

chr11:
76912673-76912673

G

A

exonic

De novo

nonsynonymous SNV

NM_000260
NM_001127180

c.G5033A
c.G4919A

p.R1678Q
p.R1640Q

7.777

Fu2022 E
Satterstrom2020 E

MYO7A

1-0006-003

chr11:
76889440-76889440

A

AT

intronic

De novo

-

-

Yuen2017 G

MYO7A

1-0191-004

chr11:
76882479-76882479

C

G

intronic

De novo

-

-

Yuen2017 G

MYO7A

SP0039518

chr11:
76869269-76869269

T

G

intronic

De novo

-

-

Fu2022 E

MYO7A

SP0096153

chr11:
76866887-76866887

A

C

intronic

De novo

-

-

Fu2022 E

MYO7A

1-0201-005

chr11:
76889437-76889437

T

TCCGC

intronic

De novo

-

-

Yuen2017 G

MYO7A

AU3858303

chr11:
76867318-76867318

G

A

intronic

De novo

-

-

Yuen2017 G

MYO7A

12119.p1

chr11:
76922320-76922320

C

T

exonic

Mosaic

synonymous SNV

NM_000260
NM_001127180

c.C6175T
c.C6061T

p.L2059L
p.L2021L

-

-

Dou2017 E

MYO7A

5141_201_child

chr11:
76891512-76891512

C

T

exonic

De novo

synonymous SNV

NM_000260
NM_001127179
NM_001127180

c.C2679T
c.C2679T
c.C2679T

p.A893A
p.A893A
p.A893A

-

Neale2012 E

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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