Variant Results

or

Results for "ANO5"

Variant Events: 30

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

ANO5

AU4032307

chr11:
22328685-22328685

A

C

intergenic

De novo

-

Yuen2017 G

ANO5

SSC05830

chr11:
22276997-22276997

C

T

exonic

De novo

stopgain

NM_001142649
NM_213599

c.C1258T
c.C1261T

p.Q420X
p.Q421X

41.0

-

Fu2022 E
Lim2017 E
Trost2022 G

ANO5

7-0250-003

chr11:
22272213-22272213

G

A

intronic

De novo

-

Yuen2017 G

ANO5

3-0063-000

chr11:
22265264-22265269

ATAGTA

TGTCTT

intronic

De novo

-

Trost2022 G

ANO5

5-0129-003

chr11:
22265466-22265468

TGA

AATTT

intronic

De novo

-

Trost2022 G

ANO5

AU2207301

chr11:
22242277-22242277

C

A

intronic

De novo

-

Trost2022 G

ANO5

4-0056-003

chr11:
22262823-22262829

ATTTATC

CTGTTCT

intronic

De novo

-

Trost2022 G

ANO5

AU2320301

chr11:
22214548-22214548

G

T

upstream

De novo

-

Trost2022 G

ANO5

2-1733-003

chr11:
22225466-22225466

C

A

intronic

De novo

-

Trost2022 G

ANO5

12792.p1

chr11:
22276997-22276997

C

T

exonic

De novo

stopgain

NM_001142649
NM_213599

c.C1258T
c.C1261T

p.Q420X
p.Q421X

41.0

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

ANO5

A22

chr11:
22304143-22304143

C

T

UTR3

De novo

-

Wu2018 G

ANO5

SP0205713

chr11:
22296204-22296204

A

T

exonic

De novo

synonymous SNV

NM_001142649
NM_213599

c.A2322T
c.A2325T

p.G774G
p.G775G

-

Trost2022 G

ANO5

2-1475-003

chr11:
22288711-22288711

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANO5

5-0129-003

chr11:
22265471-22265472

TG

GT

intronic

De novo

-

Trost2022 G

ANO5

7-0250-003A

chr11:
22272213-22272213

G

A

intronic

De novo

-

Trost2022 G

ANO5

1-0402-004

chr11:
22342195-22342195

G

A

intergenic

De novo

-

Yuen2017 G

ANO5

AU2793303

chr11:
22282442-22282442

A

G

intronic

De novo

-

Yuen2017 G

ANO5

Uddin2014:13

chr11:
22276997-22276997

C

T

exonic

De novo

stopgain

NM_001142649
NM_213599

c.C1258T
c.C1261T

p.Q420X
p.Q421X

41.0

-

Uddin2014 E

ANO5

AU4237301

chr11:
22357838-22357838

T

C

intergenic

De novo

-

Yuen2017 G

ANO5

2-0081-003

chr11:
22314204-22314209

ACACGT

A

intergenic

De novo

-

Yuen2017 G

ANO5

DEASD_0028_001

chr11:
22242608-22242608

A

G

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

ANO5

AU0780302

chr11:
22265070-22265070

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ANO5

2-1269-003

chr11:
22305462-22305462

G

C

downstream

De novo

-

Yuen2016 G
Yuen2017 G

ANO5

1-0804-003

chr11:
22293835-22293835

A

C

intronic

De novo

-

Yuen2017 G

ANO5

AU1404301

chr11:
22291960-22291961

TG

T

exonic

Maternal

frameshift deletion

NM_001142649
NM_213599

c.1999delG
c.2002delG

p.G667fs
p.G668fs

-

Cirnigliaro2023 G

ANO5

mAGRE1889

chr11:
22284590-22284590

G

A

splicing

Paternal

splicing

20.8

9.103E-5

Cirnigliaro2023 G

ANO5

AU1308303

chr11:
22284590-22284590

G

A

splicing

Paternal

splicing

20.8

9.103E-5

Cirnigliaro2023 G

ANO5

iHART1889

chr11:
22284590-22284590

G

A

splicing

Paternal

splicing

20.8

9.103E-5

Ruzzo2019 G

ANO5

2-1434-003

chr11:
22217605-22217605

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ANO5

iHART1890

chr11:
22284590-22284590

G

A

splicing

Paternal

splicing

20.8

9.103E-5

Ruzzo2019 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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