Variant Results

or

or

Results for "ZBTB49"

Variant Events: 16

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

ZBTB49

AU3997301

chr4:
4305049-4305049

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ZBTB49

1-0763-004

chr4:
4382251-4382251

G

A

intergenic

De novo

-

-

Yuen2017 G

ZBTB49

1-0190-003

chr4:
4336533-4336533

A

G

intergenic

De novo

-

-

Yuen2017 G

ZBTB49

2-1177-003

chr4:
4371246-4371246

T

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

ZBTB49

12761.p1

chr4:
4303826-4303826

A

T

exonic

Mosaic, De novo

nonsynonymous SNV

NM_145291

c.A263T

p.D88V

23.1

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

ZBTB49

Lim2017:70328

chr4:
4303826-4303826

A

T

exonic

Mosaic

nonsynonymous SNV

NM_145291

c.A263T

p.D88V

23.1

-

Lim2017 E

ZBTB49

70328

chr4:
4303826-4303826

A

T

exonic

De novo

nonsynonymous SNV

NM_145291

c.A263T

p.D88V

23.1

-

Trost2022 G

ZBTB49

2-0011-004

chr4:
4308686-4308686

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ZBTB49

iHART1691

chr4:
4323033-4323033

T

A

exonic

Paternal

stopgain

NM_145291

c.T2288A

p.L763X

49.0

-

Ruzzo2019 G

ZBTB49

2-1511-003

chr4:
4327278-4327281

TGCG

TG

intergenic

De novo

-

-

Yuen2017 G

ZBTB49

mAGRE1691

chr4:
4323033-4323033

T

A

exonic

Paternal

stopgain

NM_145291

c.T2288A

p.L763X

49.0

-

Cirnigliaro2023 G

ZBTB49

SP0032284

chr4:
4301717-4301717

G

A

exonic

De novo

synonymous SNV

NM_145291

c.G45A

p.L15L

-

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

ZBTB49

AU3397302

chr4:
4369852-4369852

T

C

intergenic

De novo

-

-

Yuen2017 G

ZBTB49

1-0570-003

chr4:
4371260-4371260

C

CCATCGAATCAGGTTCGATTCATGATG

intergenic

De novo

-

-

Yuen2017 G

ZBTB49

133338

chr4:
4323029-4323029

G

A

exonic

nonsynonymous SNV

NM_145291

c.G2284A

p.E762K

29.2

-

Woodbury-Smith2022 E

ZBTB49

SP0010319

chr4:
4304464-4304464

A

G

exonic

De novo

nonsynonymous SNV

NM_145291

c.A901G

p.M301V

13.3

-

Fu2022 E
Trost2022 G
Zhou2022 GE

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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