Variant Results

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Results for "ZMYM5"

Variant Events: 13

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

ZMYM5

11572.p1

chr13:
20479291-20479291

A

G

intergenic

De novo

-

-

Turner2016 G

ZMYM5

2-1477-003

chr13:
20457890-20457905

GTATATATATATATAT

GTATATATATATAT

intergenic

De novo

-

-

Yuen2017 G

ZMYM5

1-0629-003

chr13:
20474851-20474871

AAATAATAATAATAATAATAA

AAATAATAATAATAATAA

intergenic

De novo

-

-

Yuen2017 G

ZMYM5

A24

chr13:
20521833-20521833

C

A

intergenic

De novo

-

-

Wu2018 G

ZMYM5

60-4031

chr13:
20413118-20413118

C

G

exonic

Inherited

nonsynonymous SNV

NM_001039650
NM_001142684

c.G594C
c.G594C

p.W198C
p.W198C

12.84

-

Patowary2019 E

ZMYM5

A24

Complex Event; expand row to view variants

De novo

-

-

Wu2018 G
Wu2018 G

ZMYM5

1-0994-003

chr13:
20474851-20474871

AAATAATAATAATAATAATAA

AAATAATAATAATAATAA

intergenic

De novo

-

-

Yuen2017 G

ZMYM5

AU4228302

chr13:
20409168-20409168

G

A

intronic

De novo

-

-

Yuen2017 G

ZMYM5

2-1128-003

chr13:
20438176-20438176

C

A

upstream

De novo

-

-

Yuen2016 G

ZMYM5

GAU0046C

chr13:
20411805-20411805

T

C

exonic

De novo

synonymous SNV

NM_001039650
NM_001142684

c.A1029G
c.A1029G

p.K343K
p.K343K

-

-

Fu2022 E
Lim2017 E
Satterstrom2020 E

ZMYM5

2-0142-003

chr13:
20415124-20415124

C

T

intronic

De novo

-

-

Yuen2017 G

ZMYM5

1-0976-003

chr13:
20491087-20491087

A

T

intergenic

De novo

-

-

Yuen2017 G

ZMYM5

AU3861302

chr13:
20418831-20418831

G

A

intronic

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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