Variant Results

or

Results for "ATP9B"

Variant Events: 31

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

ATP9B

SP0013092

chr18:
77137173-77137173

G

T

intronic

De novo

-

Fu2022 E

ATP9B

SP0047212

chr18:
77090093-77090142

CTGGAAGAGGAGGTATGTGAGTGACTCTAGCGTGGTTCACAGTGTTTCTA

C

exonic

De novo

frameshift deletion

NM_001306085
NM_198531

c.2018_2028del
c.2018_2028del

p.L673fs
p.L673fs

-

Fu2022 E

ATP9B

7-0256-003

chr18:
77106427-77106427

G

A

intronic

De novo

-

Yuen2017 G

ATP9B

iHART2777

chr18:
77104264-77104264

G

A

splicing

Maternal

splicing

12.42

-

Ruzzo2019 G

ATP9B

03HI2710A

chr18:
76873279-76873279

T

G

exonic

stopgain

NM_001306085
NM_198531

c.T483G
c.T483G

p.Y161X
p.Y161X

32.0

-

Doan2019 E

ATP9B

iHART1647

chr18:
76873279-76873279

T

G

exonic

Paternal

stopgain

NM_001306085
NM_198531

c.T483G
c.T483G

p.Y161X
p.Y161X

32.0

-

Ruzzo2019 G

ATP9B

03HI2710A

chr18:
76886265-76886265

A

T

splicing

22.9

2.474E-5

Doan2019 E

ATP9B

5-0106-003

chr18:
77142201-77142201

A

G

intergenic

De novo

-

Yuen2017 G

ATP9B

PN400313

chr18:
77096646-77096646

G

C

exonic

Unknown

nonsynonymous SNV

NM_001306085
NM_198531

c.G2047C
c.G2047C

p.E683Q
p.E683Q

23.8

3.0E-4

Leblond2019 E

ATP9B

PN400379

chr18:
77037137-77037137

G

A

exonic

Unknown

nonsynonymous SNV

NM_001306085
NM_198531

c.G1352A
c.G1352A

p.R451Q
p.R451Q

34.0

2.471E-5

Leblond2019 E

ATP9B

1-0233-004

chr18:
76960779-76960779

A

AGGCGGAGGTGGGAACTGTCGGGGTCAG

intronic

De novo

-

Yuen2017 G

ATP9B

1-0563-004

chr18:
76960735-76960735

G

GGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCAT

intronic

De novo

-

Yuen2017 G

ATP9B

AU3506303

chr18:
76964998-76964998

C

T

intronic

De novo

-

Yuen2017 G

ATP9B

1-0566-003

chr18:
76972095-76972095

C

A

intronic

De novo

-

Yuen2017 G

ATP9B

2-1722-003

chr18:
76965328-76965328

T

C

intronic

De novo

-

Yuen2017 G

ATP9B

2-1722-003

chr18:
76965346-76965346

C

T

intronic

De novo

-

Yuen2017 G

ATP9B

2-0318-004

chr18:
76916829-76916829

A

AGGCTGCC

intronic

De novo

-

Yuen2017 G

ATP9B

2-1250-003

chr18:
76960779-76960779

A

AGGCGGAGGTGGGAACTGTCGGGGTCAG

intronic

De novo

-

Yuen2017 G

ATP9B

2-1620-004

chr18:
76960733-76960733

C

CAGGGTCAGAGCAGAGGCGGAGGTGGGAACGTT

intronic

De novo

-

Yuen2017 G

ATP9B

1-0045-004

chr18:
76960779-76960779

A

AGGTGGAGGTGGGGACTGTCGGGGTCAG

intronic

De novo

-

Yuen2017 G

ATP9B

5-0074-003

chr18:
77094582-77094582

G

T

intronic

De novo

-

Yuen2017 G

ATP9B

2-1505-004

chr18:
76960734-76960734

G

GGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCA

intronic

De novo

-

Yuen2017 G

ATP9B

AU2410302

chr18:
77123385-77123385

G

C

intronic

De novo

-

Yuen2017 G

ATP9B

2-0289-004

chr18:
76960734-76960734

G

GGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCA

intronic

De novo

-

Yuen2017 G

ATP9B

AU2000302

chr18:
77054408-77054408

C

T

intronic

De novo

-

Yuen2017 G

ATP9B

AU2787301

chr18:
76995617-76995617

G

A

intronic

De novo

-

Yuen2017 G

ATP9B

2-1334-003

chr18:
76873551-76873551

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ATP9B

2-1359-003

chr18:
77102379-77102379

C

T

intronic

De novo

-

0.0022

Yuen2017 G

ATP9B

1-0208-003

chr18:
77095254-77095254

C

T

intronic

De novo

-

Yuen2017 G

ATP9B

60-2027

chr18:
76882806-76882806

A

G

intronic

De novo

-

Michaelson2012 G

ATP9B

1-0455-004

chr18:
76960733-76960733

C

CGGGGTCAGAGCAGAGGCGGAGGTGGGAACGTT

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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