Variant Results

or

Results for "MYO7B"

Variant Events: 21

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

MYO7B

1-0336-004

chr2:
128341916-128341916

T

A

intronic

De novo

-

Yuen2017 G

MYO7B

03HI2710A

chr2:
128390811-128390811

C

T

intronic

De novo

-

Satterstrom2020 E

MYO7B

14283.p1

chr2:
128366324-128366324

C

T

exonic

De novo

synonymous SNV

NM_001080527

c.C2685T

p.G895G

-

5.148E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

MYO7B

iHART3115

chr2:
128394890-128394890

G

A

splicing

Maternal

splicing

16.29

4.0E-4

Ruzzo2019 G

MYO7B

12933.p1

chr2:
128381815-128381815

C

T

exonic

De novo

nonsynonymous SNV

NM_001080527

c.C3889T

p.R1297W

14.42

3.892E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E

MYO7B

iHART3114

chr2:
128394890-128394890

G

A

splicing

Maternal

splicing

16.29

4.0E-4

Ruzzo2019 G

MYO7B

13598.p1

chr2:
128384626-128384626

C

T

exonic

De novo

nonsynonymous SNV

NM_001080527

c.C4214T

p.P1405L

32.0

2.074E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

MYO7B

12906.p1

chr2:
128388847-128388847

G

C

exonic

De novo

nonsynonymous SNV

NM_001080527

c.G4926C

p.W1642C

17.73

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

MYO7B

1-0568-003

chr2:
128393266-128393266

A

ACCCAGCATG

intronic

De novo

-

0.001

Yuen2017 G

MYO7B

iHART2434

chr2:
128389939-128389940

GC

G

exonic

Maternal

frameshift deletion

NM_001080527

c.5291delC

p.A1764fs

-

9.293E-6

Ruzzo2019 G

MYO7B

iHART2730

chr2:
128338397-128338397

G

GCT

exonic

Maternal

frameshift insertion

NM_001080527

c.1080_1081insCT

p.E360fs

-

8.281E-5

Ruzzo2019 G

MYO7B

Lim2017:36081

chr2:
128366324-128366324

C

T

exonic

De novo

synonymous SNV

NM_001080527

c.C2685T

p.G895G

-

5.148E-5

Lim2017 E

MYO7B

11134.p1

chr2:
128363533-128363533

G

A

intronic

De novo

-

Krumm2015 E
Satterstrom2020 E

MYO7B

2-1342-003

chr2:
128293614-128293630

TGAGGAGGAGGAGGAGG

TGAGGAGGAGGAGG

intronic

De novo

-

Yuen2017 G

MYO7B

104-06-105816

chr2:
128345990-128345990

G

A

exonic

De novo

nonsynonymous SNV

NM_001080527

c.G1714A

p.V572M

4.875

3.0E-4

Satterstrom2020 E

MYO7B

2H596

chr2:
128384714-128384714

C

T

intronic

De novo

-

Satterstrom2020 E

MYO7B

Lim2017:78714

chr2:
128384626-128384626

C

T

exonic

De novo

nonsynonymous SNV

NM_001080527

c.C4214T

p.P1405L

32.0

2.074E-5

Lim2017 E

MYO7B

AU002903

chr2:
128382450-128382450

C

T

intronic

De novo

-

Yuen2017 G

MYO7B

AU3809302

chr2:
128378624-128378624

C

G

intronic

De novo

-

Yuen2017 G

MYO7B

Lim2017:4899

chr2:
128381815-128381815

C

T

exonic

De novo

nonsynonymous SNV

NM_001080527

c.C3889T

p.R1297W

14.42

3.892E-5

Lim2017 E

MYO7B

2-0142-004

chr2:
128394339-128394339

G

A

intronic

De novo

-

9.215E-5

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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