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Results for "ATP1A3"

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
ATP1A3     3-0775-000chr19:
42489329-42489329
CTexonicDe novononsynonymous SNVNM_001256213
NM_001256214
NM_152296
c.G767A
c.G773A
c.G734A
p.R256Q
p.R258Q
p.R245Q
17.19-Trost2022 G
Zhou2022 GE
ATP1A3     SP0234109chr19:
42482207-42482207
GAexonicDe novosynonymous SNVNM_001256213
NM_001256214
NM_152296
c.C1857T
c.C1863T
c.C1824T
p.G619G
p.G621G
p.G608G
-8.237E-6Trost2022 G
ATP1A3     MSSNG00003-004chr19:
42475447-42475447
TCintronicDe novo--Trost2022 G
ATP1A3     JASD_Fam0085chr19:
42474692-42474692
GAexonicDe novononsynonymous SNVNM_001256213
NM_001256214
NM_152296
c.C2299T
c.C2305T
c.C2266T
p.R767C
p.R769C
p.R756C
20.5-Takata2018 E
ATP1A3     SP0089919chr19:
42489154-42489154
GAexonicDe novosynonymous SNVNM_001256213
NM_001256214
NM_152296
c.C942T
c.C948T
c.C909T
p.L314L
p.L316L
p.L303L
-5.967E-5Fu2022 E
Trost2022 G
Zhou2022 GE
ATP1A3     Miyake2023:8559chr19:
42474692-42474692
GAexonicDe novononsynonymous SNVNM_001256213
NM_001256214
NM_152296
c.C2299T
c.C2305T
c.C2266T
p.R767C
p.R769C
p.R756C
20.5-Miyake2023 E
ATP1A3     1-0441-003chr19:
42474421-42474421
CTexonicDe novononsynonymous SNVNM_001256213
NM_001256214
NM_152296
c.G2491A
c.G2497A
c.G2458A
p.D831N
p.D833N
p.D820N
23.84.945E-5Yuen2017 G
Zhou2022 GE
ATP1A3     10C108736chr19:
42474421-42474421
CTexonicDe novononsynonymous SNVNM_001256213
NM_001256214
NM_152296
c.G2491A
c.G2497A
c.G2458A
p.D831N
p.D833N
p.D820N
23.84.945E-5Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ATP1A3     SP0124403chr19:
42485962-42485962
GAexonicDe novononsynonymous SNVNM_001256213
NM_001256214
NM_152296
c.C1247T
c.C1253T
c.C1214T
p.S416L
p.S418L
p.S405L
18.788.238E-6Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
ATP1A3     G01-GEA-288-HIchr19:
42489588-42489588
GAintronicDe novo--Satterstrom2020 E
Trost2022 G
ATP1A3     161658chr19:
42492180-42492180
CAexonicDe novononsynonymous SNVNM_001256213
NM_001256214
NM_152296
c.G298T
c.G304T
c.G265T
p.G100C
p.G102C
p.G89C
20.8-Fu2022 E
ATP1A3     SP0085546chr19:
42470645-42470645
CTdownstreamDe novo--Fu2022 E
Trost2022 G
ATP1A3     09C95549chr19:
42489176-42489176
AGexonicDe novononsynonymous SNVNM_001256213
NM_001256214
NM_152296
c.T920C
c.T926C
c.T887C
p.F307S
p.F309S
p.F296S
20.7-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
Source Variant Information

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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 notesView
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