Variant Results

or

Results for "ZRANB3"

Variant Events: 48

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

ZRANB3

AU024606

chr2:
136118032-136118032

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZRANB3

1-0395-003

chr2:
136152474-136152474

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZRANB3

2-1567-004

chr2:
136193811-136193811

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZRANB3

1-0173-004

chr2:
136098796-136098796

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZRANB3

AU3918302

chr2:
136081192-136081192

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZRANB3

1-0339-003

chr2:
136107533-136107533

G

A

intronic

De novo

-

8.443E-6

Trost2022 G
Yuen2017 G

ZRANB3

2-0244-003

chr2:
136272882-136272882

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZRANB3

AU4122301

chr2:
136166743-136166743

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZRANB3

1-0395-004

chr2:
136152474-136152474

C

T

intronic

De novo

-

Yuen2017 G

ZRANB3

1-1004-003

chr2:
136173814-136173814

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZRANB3

9190789

chr2:
135988417-135988417

G

A

exonic

De novo

synonymous SNV

NM_001286568
NM_032143
NM_001286569

c.C1620T
c.C1620T
c.C258T

p.D540D
p.D540D
p.D86D

-

1.0E-4

Fu2022 E

ZRANB3

2-0244-003

chr2:
136137414-136137415

CC

AT

intronic

De novo

-

Trost2022 G

ZRANB3

SP0073804

chr2:
135988312-135988312

C

T

exonic

De novo

synonymous SNV

NM_001286568
NM_032143
NM_001286569

c.G1725A
c.G1725A
c.G363A

p.T575T
p.T575T
p.T121T

-

9.982E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

ZRANB3

3-0709-000

chr2:
136171939-136171940

GG

AA

intronic

De novo

-

Trost2022 G

ZRANB3

68576

chr2:
136072939-136072939

G

A

exonic

De novo

nonsynonymous SNV

NM_001286568
NM_032143

c.C839T
c.C839T

p.A280V
p.A280V

13.59

-

Fu2022 E
Trost2022 G

ZRANB3

36902

chr2:
135982012-135982012

A

G

exonic

De novo

nonsynonymous SNV

NM_001286568
NM_032143
NM_001286569

c.T2228C
c.T2234C
c.T872C

p.I743T
p.I745T
p.I291T

22.2

-

Trost2022 G

ZRANB3

AU4012302

chr2:
136133340-136133340

G

A

intronic

De novo

-

Yuen2017 G

ZRANB3

MT_156.3

chr2:
136083848-136083848

G

C

intronic

De novo

-

Trost2022 G

ZRANB3

5-1043-003

chr2:
135971917-135971917

T

C

intronic

De novo

-

Trost2022 G

ZRANB3

1-0286-004

chr2:
136040897-136040897

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZRANB3

AU0452304

chr2:
136266382-136266382

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZRANB3

AU050704

chr2:
136185083-136185083

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZRANB3

AU2828301

chr2:
135980810-135980810

G

C

intronic

De novo

-

Trost2022 G

ZRANB3

2-1164-003

chr2:
136183944-136183966

CACAACAACAACAACAACAACAA

CACAACAACAACAACAACAA

intronic

De novo

-

Yuen2017 G

ZRANB3

1-0144-005

chr2:
136046636-136046636

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZRANB3

REACH000671

chr2:
136231654-136231654

G

A

intronic

De novo

-

Trost2022 G

ZRANB3

MSSNG00108-004

chr2:
136242483-136242483

G

A

intronic

De novo

-

Trost2022 G

ZRANB3

2-1277-004

chr2:
136229991-136229991

A

G

intronic

De novo

-

Trost2022 G

ZRANB3

1-0139-005

chr2:
136079505-136079506

GA

G

intronic

De novo

-

Yuen2017 G

ZRANB3

2-1277-004

chr2:
136229995-136229995

G

A

intronic

De novo

-

Trost2022 G

ZRANB3

4-0002-003

chr2:
136219715-136219715

T

C

intronic

De novo

-

Trost2022 G

ZRANB3

TRE_270

chr2:
136026532-136026532

C

T

exonic

De novo

synonymous SNV

NM_001286568
NM_032143
NM_001286569

c.G1386A
c.G1386A
c.G24A

p.K462K
p.K462K
p.K8K

-

Fu2022 E

ZRANB3

2-1277-004

chr2:
136229984-136229987

GGCG

CACT

intronic

De novo

-

Trost2022 G

ZRANB3

2-1753-003

chr2:
136197903-136197904

AG

A

intronic

De novo

-

Trost2022 G

ZRANB3

7-0351-004

chr2:
136207729-136207729

G

T

intronic

De novo

-

Trost2022 G

ZRANB3

mAGRE5960

chr2:
136148371-136148371

C

A

splicing

Maternal

splicing

18.79

-

Cirnigliaro2023 G

ZRANB3

mAGRE4663

chr2:
136029380-136029381

AG

A

exonic

Paternal

frameshift deletion

NM_001286568
NM_032143

c.1163delC
c.1163delC

p.P388fs
p.P388fs

-

3.0E-4

Cirnigliaro2023 G

ZRANB3

14570.p1

chr2:
135982012-135982012

A

G

exonic

De novo

nonsynonymous SNV

NM_001286568
NM_032143
NM_001286569

c.T2228C
c.T2234C
c.T872C

p.I743T
p.I745T
p.I291T

22.2

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ZRANB3

11446.p1

chr2:
136072939-136072939

G

A

exonic

De novo

nonsynonymous SNV

NM_001286568
NM_032143

c.C839T
c.C839T

p.A280V
p.A280V

13.59

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ZRANB3

5-0055-003

chr2:
136125785-136125785

A

ATCAT

intronic

De novo

-

Yuen2017 G

ZRANB3

MSSNG00053-003

chr2:
136266740-136266740

G

GA

intronic

De novo

-

Trost2022 G

ZRANB3

5-0140-003

chr2:
136056930-136056930

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZRANB3

MSSNG00066-004

chr2:
136284115-136284115

G

T

intronic

De novo

-

Trost2022 G

ZRANB3

Lim2017:68576

chr2:
136072939-136072939

G

A

exonic

De novo

nonsynonymous SNV

NM_001286568
NM_032143

c.C839T
c.C839T

p.A280V
p.A280V

13.59

-

Lim2017 E

ZRANB3

1-0493-003

chr2:
136263631-136263631

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ZRANB3

Lim2017:36902

chr2:
135982012-135982012

A

G

exonic

De novo

nonsynonymous SNV

NM_001286568
NM_032143
NM_001286569

c.T2228C
c.T2234C
c.T872C

p.I743T
p.I745T
p.I291T

22.2

-

Lim2017 E

ZRANB3

AU1860301

chr2:
136082131-136082131

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ZRANB3

AU011903

chr2:
136174313-136174313

C

T

intronic

De novo

-

Trost2022 G
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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