Variant Results

or

Results for "CMYA5"

Variant Events: 26

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

CMYA5

161-06-106020

chr5:
79026014-79026014

A

G

exonic

De novo

nonsynonymous SNV

NM_153610

c.A1426G

p.T476A

9.535

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CMYA5

mAGRE4668

chr5:
79039722-79039722

G

T

exonic

Maternal

stopgain

NM_153610

c.G10711T

p.E3571X

53.0

4.241E-5

Cirnigliaro2023 G

CMYA5

mAGRE4255

chr5:
79028895-79028895

G

A

exonic

Paternal

stopgain

NM_153610

c.G4307A

p.W1436X

39.0

1.698E-5

Cirnigliaro2023 G

CMYA5

mAGRE1747

chr5:
79028841-79028842

AG

A

exonic

Paternal

frameshift deletion

NM_153610

c.4254delG

p.K1418fs

-

8.528E-6

Cirnigliaro2023 G

CMYA5

mAGRE5723

chr5:
79028148-79028150

CAG

C

exonic

Maternal

frameshift deletion

NM_153610

c.3561_3562del

p.T1187fs

-

3.349E-5

Cirnigliaro2023 G

CMYA5

mAGRE4406

chr5:
79027236-79027236

C

CA

exonic

Maternal

frameshift insertion

NM_153610

c.2649dupA

p.S883fs

-

7.499E-5

Cirnigliaro2023 G

CMYA5

7-0240-004

chr5:
78993900-78993900

T

C

intronic

De novo

-

Trost2022 G

CMYA5

AU3399303

Complex Event; expand row to view variants

De novo

frameshift deletion

NM_153610
NM_153610

c.1081_1084del
c.1085_1088del

p.Q361fs
p.S362fs

-

Cirnigliaro2023 G
Trost2022 G
Yuen2017 G
Zhou2022 GE

CMYA5

Wang2023:65

chr5:
79028244-79028244

A

G

exonic

De novo

nonsynonymous SNV

NM_153610

c.A3656G

p.H1219R

10.66

-

Wang2023 E

CMYA5

AU4283301

chr5:
79106041-79106041

A

C

intergenic

De novo

-

Yuen2017 G

CMYA5

11436.p1

chr5:
79095431-79095431

C

G

exonic

Mosaic, De novo

nonsynonymous SNV

NM_153610

c.C12202G

p.H4068D

19.36

-

Dou2017 E
Ji2016 E
Krumm2015 E
Zhou2022 GE

CMYA5

mAGRE4204

chr5:
79057632-79057632

A

G

splicing

Paternal

splicing

19.22

6.676E-5

Cirnigliaro2023 G

CMYA5

AU4164301

chr5:
79179787-79179787

A

G

intergenic

De novo

-

Yuen2017 G

CMYA5

2-1798-003

chr5:
79066739-79066739

G

A

intronic

De novo

-

Trost2022 G

CMYA5

5-0004-003

chr5:
79049541-79049544

TATG

ACTC

intronic

De novo

-

Trost2022 G

CMYA5

1-0200-004

chr5:
79049541-79049544

TATG

ACTC

intronic

De novo

-

Trost2022 G

CMYA5

AU075803

chr5:
79023121-79023121

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CMYA5

MT_181.4

chr5:
79014966-79014966

G

C

intronic

De novo

-

Trost2022 G

CMYA5

2-1493-003

chr5:
79041779-79041779

G

A

intronic

De novo

-

Trost2022 G

CMYA5

2-1408-003

chr5:
79194149-79194149

G

A

intergenic

De novo

-

Yuen2017 G

CMYA5

2-1267-003

chr5:
79135753-79135753

C

T

intergenic

De novo

-

Yuen2017 G

CMYA5

iHART1747

chr5:
79028841-79028842

AG

A

exonic

Paternal

frameshift deletion

NM_153610

c.4254delG

p.K1418fs

-

8.528E-6

Ruzzo2019 G

CMYA5

150561

chr5:
79086889-79086889

C

T

exonic

De novo

nonsynonymous SNV

NM_153610

c.C11786T

p.T3929M

17.64

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CMYA5

1-0004-003

chr5:
79034662-79034662

C

T

exonic

De novo

synonymous SNV

NM_153610

c.C10074T

p.H3358H

-

1.659E-5

Yuen2017 G
Zhou2022 GE

CMYA5

AU2333302

chr5:
79192177-79192177

T

C

intergenic

De novo

-

Yuen2017 G

CMYA5

1-0906-003

chr5:
79210932-79210932

G

A

intergenic

De novo

-

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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