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Results for "ATP2B1-AS1"

Variant Events: 53

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
ATP2B1-AS1     AU056204chr12:
90498133-90498133
GAintergenicDe novo--Yuen2017 G
ATP2B1-AS1     3-0185-000chr12:
90378073-90378075
TAATAAAintergenicDe novo--Yuen2017 G
ATP2B1-AS1     AU2117302chr12:
90973076-90973076
TCintergenicDe novo--Yuen2017 G
ATP2B1-AS1     5-0109-003chr12:
90259135-90259135
CTintergenicDe novo--Yuen2017 G
ATP2B1-AS1     1-0104-004chr12:
90219179-90219179
CTintergenicDe novo--Yuen2017 G
ATP2B1-AS1     AU2162302chr12:
90585411-90585411
AGintergenicDe novo--Yuen2017 G
ATP2B1-AS1     2-0214-003chr12:
90566495-90566495
CTintergenicDe novo--Yuen2017 G
ATP2B1-AS1     A28chr12:
91158875-91158875
TCintergenicDe novo--Wu2018 G
ATP2B1-AS1     AU2792301chr12:
90778641-90778641
AGintergenicDe novo--Yuen2017 G
ATP2B1-AS1     AU3398301chr12:
91137791-91137791
CTintergenicDe novo--Yuen2017 G
ATP2B1-AS1     AU1988302chr12:
90634046-90634046
TGintergenicDe novo--Yuen2017 G
ATP2B1-AS1     2-1370-003chr12:
90639756-90639756
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
ATP2B1-AS1     2-0319-003chr12:
90244151-90244151
AGintergenicDe novo--Yuen2017 G
ATP2B1-AS1     AU076704chr12:
90454914-90454914
AGintergenicDe novo--Yuen2017 G
ATP2B1-AS1     1-0412-003chr12:
90896774-90896774
TCintergenicDe novo--Yuen2017 G
ATP2B1-AS1     2-1155-003chr12:
90612284-90612297
GGAGAGAGAGAGAGGGAGAGAGAGAGintergenicDe novo--Yuen2017 G
ATP2B1-AS1     7-0183-003chr12:
90587427-90587427
CGintergenicDe novo--Yuen2017 G
ATP2B1-AS1     AU061003chr12:
90755375-90755375
CTintergenicDe novo--Yuen2017 G
ATP2B1-AS1     2-1330-003chr12:
90656863-90656863
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
ATP2B1-AS1     AU3840302chr12:
90579925-90579925
GCintergenicDe novo--Yuen2017 G
ATP2B1-AS1     2-0028-003chr12:
90549035-90549041
ATGTTTGAintergenicDe novo--Yuen2016 G
ATP2B1-AS1     1-0019-004chr12:
91069433-91069433
AGintergenicDe novo--Yuen2017 G
ATP2B1-AS1     AU3695303chr12:
90214961-90214968
CTTTTTTTCTTTTTTTTintergenicDe novo--Yuen2017 G
ATP2B1-AS1     2-0242-005chr12:
91117357-91117360
CTTGCintergenicDe novo--Yuen2017 G
ATP2B1-AS1     5-0055-003chr12:
90601966-90601966
ATintergenicDe novo--Yuen2017 G
ATP2B1-AS1     2-1709-003chr12:
90802761-90802761
AGintergenicDe novo--Yuen2017 G
ATP2B1-AS1     13637.p1chr12:
90811512-90811512
AGintergenicDe novo--Wilfert2021 G
ATP2B1-AS1     1-0373-003chr12:
90697325-90697325
AGintergenicDe novo--Yuen2017 G
ATP2B1-AS1     AU063004chr12:
91231728-91231728
CTintergenicDe novo--Yuen2017 G
ATP2B1-AS1     AU1542303chr12:
90125209-90125209
CTintergenicDe novo--Yuen2017 G
ATP2B1-AS1     2-0286-004chr12:
90325770-90325770
GAintergenicDe novo--Yuen2017 G
ATP2B1-AS1     AU4310301chr12:
90841390-90841390
CGintergenicDe novo--Yuen2017 G
ATP2B1-AS1     1-0010-005chr12:
90697918-90697918
GCintergenicDe novo--Yuen2017 G
ATP2B1-AS1     1-0459-003chr12:
90728386-90728386
GAintergenicDe novo--Yuen2017 G
ATP2B1-AS1     7-0035-003chr12:
91295099-91295099
CAintergenicDe novo--Yuen2017 G
ATP2B1-AS1     2-1281-003chr12:
90832931-90832931
CAintergenicDe novo--Yuen2017 G
ATP2B1-AS1     AU2863302chr12:
90849382-90849382
AGintergenicDe novo--Yuen2017 G
ATP2B1-AS1     2-0242-004chr12:
91117357-91117360
CTTGCintergenicDe novo--Yuen2017 G
ATP2B1-AS1     1-0112-004chr12:
90426595-90426595
CTintergenicDe novo--Yuen2017 G
ATP2B1-AS1     AU012804chr12:
91093397-91093397
TAintergenicDe novo--Yuen2017 G
ATP2B1-AS1     AU024606chr12:
91150536-91150536
ATintergenicDe novo--Yuen2017 G
ATP2B1-AS1     7-0149-003chr12:
90151046-90151046
GAintergenicDe novo--Yuen2017 G
ATP2B1-AS1     AU072904chr12:
90698527-90698527
AGintergenicDe novo--Yuen2017 G
ATP2B1-AS1     AU3874303chr12:
90994699-90994699
TAintergenicDe novo--Yuen2017 G
ATP2B1-AS1     AU4012302chr12:
90222558-90222558
CTintergenicDe novo--Yuen2017 G
ATP2B1-AS1     AU2427301chr12:
90760167-90760167
AGintergenicDe novo--Yuen2017 G
ATP2B1-AS1     1-0534-004chr12:
91156031-91156031
CAintergenicDe novo--Yuen2017 G
ATP2B1-AS1     1-0555-003chr12:
90785016-90785016
TGintergenicDe novo--Yuen2017 G
ATP2B1-AS1     AU4029301chr12:
91228033-91228036
TGGGTGGintergenicDe novo--Yuen2017 G
ATP2B1-AS1     1-0299-003chr12:
90881099-90881099
CTintergenicDe novo--Yuen2017 G
ATP2B1-AS1     2-1437-004chr12:
90742269-90742269
GGGAATintergenicDe novo--Yuen2017 G
ATP2B1-AS1     1-0191-004chr12:
91237754-91237767
TAACTTCTTATCCCTintergenicDe novo--Yuen2017 G
ATP2B1-AS1     AU3900302chr12:
90419743-90419743
TGintergenicDe novo--Yuen2017 G
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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