Variant Results

or

Results for "ATP12A"

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

ATP12A

AU4013301

chr13:
25256302-25256309

GTGTATGT

GTGT

intronic

De novo

-

Yuen2017 G

ATP12A

AU3865301

chr13:
25333701-25333701

T

C

intergenic

De novo

-

Yuen2017 G

ATP12A

SP0063582

chr13:
25284997-25284997

G

A

exonic

De novo

nonsynonymous SNV

NM_001185085
NM_001676

c.G2983A
c.G2965A

p.G995R
p.G989R

17.42

1.648E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

ATP12A

1-0294-003

chr13:
25287068-25287068

G

A

intergenic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ATP12A

AU012804

chr13:
25260519-25260519

G

A

intronic

De novo

-

Trost2022 G

ATP12A

SSC08287

chr13:
25280534-25280534

A

G

exonic

De novo

nonsynonymous SNV

NM_001185085
NM_001676

c.A2120G
c.A2102G

p.Q707R
p.Q701R

8.464

-

Trost2022 G

ATP12A

13578.p1

Complex Event; expand row to view variants

De novo

nonframeshift substitution, nonsynonymous SNV, nonframeshift deletion

NM_001185085
NM_001676
NM_001185085
NM_001676
NM_001185085
NM_001676
NM_001185085
NM_001676

c.2113_2118del
c.2095_2100del
c.2112_2117del
c.2094_2099del
c.2110_2120CCCCG
c.2092_2102CCCCG
c.A2120G
c.A2102G

p.705_706del
p.699_700del
p.704_706del
p.698_700del
N/A
N/A
p.Q707R
p.Q701R

8.464

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

ATP12A

2-1514-003

chr13:
25292045-25292045

G

A

intergenic

De novo

-

Yuen2017 G

ATP12A

mAGRE5282

chr13:
25280548-25280548

G

GC

exonic

Maternal

frameshift insertion

NM_001185085
NM_001676

c.2135dupC
c.2117dupC

p.A712fs
p.A706fs

-

Cirnigliaro2023 G

ATP12A

1-0582-003

chr13:
25314399-25314399

G

A

intergenic

De novo

-

Yuen2017 G

ATP12A

2-1128-003

chr13:
25307537-25307537

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ATP12A

SSC08287

chr13:
25280523-25280524

AG

A

exonic

De novo

frameshift deletion

NM_001185085
NM_001676

c.2110delG
c.2092delG

p.A704fs
p.A698fs

-

Fu2022 E

ATP12A

AU2863302

chr13:
25277589-25277589

A

C

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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