Variant Results

or

or

Results for "MSL2"

Variant Events: 17

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

MSL2

1-0414-005

chr3:
135912598-135912598

T

G

intronic

De novo

-

-

Yuen2017 G

MSL2

SP0055459

chr3:
135870329-135870329

C

A

exonic

De novo

nonsynonymous SNV

NM_001145417
NM_018133

c.G1172T
c.G1394T

p.G391V
p.G465V

16.37

-

Fu2022 E

MSL2

12948.p1

chr3:
135871025-135871029

TCAGA

T

exonic

De novo

frameshift deletion

NM_001145417
NM_018133

c.472_475del
c.694_697del

p.S158fs
p.S232fs

-

-

Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

MSL2

2-1357-003

chr3:
135894702-135894702

G

A

intronic

De novo

-

-

Yuen2017 G

MSL2

SP0051638

chr3:
135914494-135914494

C

G

UTR5

De novo

-

-

Fu2022 E

MSL2

SP0081509

chr3:
135870724-135870724

C

T

exonic

De novo

synonymous SNV

NM_001145417
NM_018133

c.G777A
c.G999A

p.P259P
p.P333P

-

-

Fu2022 E

MSL2

1-0381-003

chr3:
135903432-135903432

G

A

intronic

De novo

-

-

Yuen2017 G

MSL2

1-0403-004

chr3:
135910387-135910387

C

T

intronic

De novo

-

-

Yuen2017 G

MSL2

AU4186302

chr3:
135903741-135903741

C

G

intronic

De novo

-

-

Yuen2017 G

MSL2

1-0382-004

chr3:
135866977-135866977

G

C

downstream

De novo

-

-

Yuen2017 G

MSL2

1-0494-003

chr3:
135883006-135883006

G

C

intronic

De novo

-

-

Yuen2017 G

MSL2

1-0494-003A

chr3:
135883006-135883006

G

C

intronic

De novo

-

-

Yuen2017 G

MSL2

1-0563-004

chr3:
135878083-135878083

A

ACATG

intronic

De novo

-

-

Yuen2017 G

MSL2

12948_p1

chr3:
135871025-135871029

TCAGA

T

exonic

De novo

frameshift deletion

NM_001145417
NM_018133

c.472_475del
c.694_697del

p.S158fs
p.S232fs

-

-

Fu2022 E

MSL2

1-0010-005

chr3:
135878083-135878083

A

ACATG

intronic

De novo

-

-

Yuen2017 G

MSL2

AU2427303

chr3:
135949641-135949641

T

C

intergenic

De novo

-

-

Yuen2017 G

MSL2

2-0171-003

chr3:
135915887-135915887

T

C

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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