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Results for "ATP2A1"

Variant Events: 21

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
ATP2A1     3-0871-000chr16:
28905536-28905536		GAexonicDe novononsynonymous SNVNM_001286075
NM_004320
NM_173201		c.G781A
c.G1156A
c.G1156A		p.G261S
p.G386S
p.G386S		35.0-Trost2022 G
Zhou2022 GE
ATP2A1     iHART1901chr16:
28899026-28899026		TTACexonicPaternalframeshift insertionNM_001286075
NM_004320
NM_173201		c.536_537insAC
c.911_912insAC
c.911_912insAC		p.V179fs
p.V304fs
p.V304fs		--Ruzzo2019 G
ATP2A1     111316chr16:
28900137-28900137		GAexonicnonsynonymous SNVNM_001286075
NM_004320
NM_173201		c.G583A
c.G958A
c.G958A		p.A195T
p.A320T
p.A320T		26.02.475E-5Woodbury-Smith2022 E
ATP2A1     12574.p1chr16:
28913645-28913645		CGexonicDe novononsynonymous SNVNM_001286075
NM_004320
NM_173201		c.C2087G
c.C2462G
c.C2462G		p.P696R
p.P821R
p.P821R		24.78.29E-6Satterstrom2020 E
Zhou2022 GE
ATP2A1     11935.p1chr16:
28895947-28895947		CTexonicDe novononsynonymous SNVNM_001286075
NM_004320
NM_173201		c.C140T
c.C515T
c.C515T		p.T47M
p.T172M
p.T172M		34.08.339E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
ATP2A1     10C104991chr16:
28892378-28892378		CTintronicDe novo--Satterstrom2020 E
Trost2022 G
ATP2A1     14687.p1chr16:
28900149-28900149		CAexonicDe novononsynonymous SNVNM_001286075
NM_004320
NM_173201		c.C595A
c.C970A
c.C970A		p.R199S
p.R324S
p.R324S		19.29-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
ATP2A1     iHART3225chr16:
28914458-28914459		ACAexonicMaternalframeshift deletionNM_001286075
NM_004320
NM_173201		c.2478delC
c.2853delC
c.2853delC		p.D826fs
p.D951fs
p.D951fs		-8.243E-6Ruzzo2019 G
ATP2A1     iHART1905chr16:
28899026-28899026		TTACexonicPaternalframeshift insertionNM_001286075
NM_004320
NM_173201		c.536_537insAC
c.911_912insAC
c.911_912insAC		p.V179fs
p.V304fs
p.V304fs		--Ruzzo2019 G
ATP2A1     SSC12226chr16:
28900149-28900149		CAexonicDe novononsynonymous SNVNM_001286075
NM_004320
NM_173201		c.C595A
c.C970A
c.C970A		p.R199S
p.R324S
p.R324S		19.29-Fu2022 E
Lim2017 E
Trost2022 G
ATP2A1     AU3906301chr16:
28914458-28914459		ACAexonicMaternalframeshift deletionNM_001286075
NM_004320
NM_173201		c.2478delC
c.2853delC
c.2853delC		p.D826fs
p.D951fs
p.D951fs		-8.243E-6Cirnigliaro2023 G
ATP2A1     AU1894304chr16:
28909366-28909366		CTexonicMaternalstopgainNM_001286075
NM_004320
NM_173201		c.C1090T
c.C1465T
c.C1465T		p.R364X
p.R489X
p.R489X		39.0-Cirnigliaro2023 G
ATP2A1     AU1894303chr16:
28909366-28909366		CTexonicMaternalstopgainNM_001286075
NM_004320
NM_173201		c.C1090T
c.C1465T
c.C1465T		p.R364X
p.R489X
p.R489X		39.0-Cirnigliaro2023 G
ATP2A1     mAGRE1905chr16:
28899026-28899026		TTACexonicPaternalframeshift insertionNM_001286075
NM_004320
NM_173201		c.536_537insAC
c.911_912insAC
c.911_912insAC		p.V179fs
p.V304fs
p.V304fs		--Cirnigliaro2023 G
ATP2A1     SP0021369chr16:
28891326-28891326		TAintronicDe novo--Trost2022 G
ATP2A1     mAGRE1901chr16:
28899026-28899026		TTACexonicPaternalframeshift insertionNM_001286075
NM_004320
NM_173201		c.536_537insAC
c.911_912insAC
c.911_912insAC		p.V179fs
p.V304fs
p.V304fs		--Cirnigliaro2023 G
ATP2A1     SP0120909chr16:
28891326-28891326		TAintronicDe novo--Trost2022 G
ATP2A1     11935_p1chr16:
28895947-28895947		CTexonicDe novononsynonymous SNVNM_001286075
NM_004320
NM_173201		c.C140T
c.C515T
c.C515T		p.T47M
p.T172M
p.T172M		34.08.339E-6Fu2022 E
ATP2A1     SSC05828chr16:
28913645-28913645		CGexonicDe novononsynonymous SNVNM_001286075
NM_004320
NM_173201		c.C2087G
c.C2462G
c.C2462G		p.P696R
p.P821R
p.P821R		24.78.29E-6Fu2022 E
Trost2022 G
ATP2A1     2-1269-003chr16:
28892378-28892378		CTintronicDe novo--Yuen2016 G
Yuen2017 G
ATP2A1     SP0077905chr16:
28915739-28915739		GAUTR3De novo24.3-Fu2022 E
Trost2022 G
Trost2022 G
Source Variant Information

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Source:

Paper alias:

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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
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