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Results for "ATP2B4"

Variant Events: 14

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
ATP2B4     2-1266-003chr1:
203596409-203596409
AGintronicDe novo--Yuen2016 G
Yuen2017 G
ATP2B4     AU3680302chr1:
203662475-203662475
AGintronicDe novo--Yuen2017 G
ATP2B4     SSC04564chr1:
203652386-203652386
GAexonicDe novononsynonymous SNVNM_001001396
NM_001684
c.G53A
c.G53A
p.R18H
p.R18H
0.0955.767E-5Lim2017 E
ATP2B4     12302.p1chr1:
203652386-203652386
GAexonicDe novononsynonymous SNVNM_001001396
NM_001684
c.G53A
c.G53A
p.R18H
p.R18H
0.0955.767E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
ATP2B4     AU3915301chr1:
203723489-203723489
CTintergenicDe novo--Yuen2017 G
ATP2B4     AU073006chr1:
203616103-203616103
GAintronicDe novo--Yuen2017 G
ATP2B4     09C81606chr1:
203689677-203689677
GAexonicDe novononsynonymous SNVNM_001001396
NM_001684
c.G2407A
c.G2407A
p.G803S
p.G803S
22.4-Satterstrom2020 E
ATP2B4     iHART2237chr1:
203668776-203668776
CTexonicPaternalstopgainNM_001001396
NM_001684
c.C580T
c.C580T
p.R194X
p.R194X
41.08.237E-6Ruzzo2019 G
ATP2B4     iHART2239chr1:
203668776-203668776
CTexonicPaternalstopgainNM_001001396
NM_001684
c.C580T
c.C580T
p.R194X
p.R194X
41.08.237E-6Ruzzo2019 G
ATP2B4     AU112Achr1:
203668581-203668581
GTintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
ATP2B4     AU2951303chr1:
203689677-203689677
GAexonicDe novononsynonymous SNVNM_001001396
NM_001684
c.G2407A
c.G2407A
p.G803S
p.G803S
22.4-Yuen2017 G
ATP2B4     AU2951302chr1:
203689677-203689677
GAexonicDe novononsynonymous SNVNM_001001396
NM_001684
c.G2407A
c.G2407A
p.G803S
p.G803S
22.4-Yuen2017 G
ATP2B4     AU4029302chr1:
203703363-203703363
GAintronicDe novo--Yuen2017 G
ATP2B4     131-09-111090chr1:
203668845-203668845
GAexonicDe novononsynonymous SNVNM_001001396
NM_001684
c.G649A
c.G649A
p.G217S
p.G217S
34.0-Satterstrom2020 E
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
Curation notesView
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