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Results for "ABR"

Variant Events: 34

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
ABR     1-0161-004chr17:
1123324-1123324
GAintergenicDe novo--Yuen2017 G
ABR     1-0751-003chr17:
1109928-1109928
TAintergenicDe novo--Yuen2017 G
ABR     AU3955303chr17:
932518-932518
TCintronicDe novo--Yuen2017 G
ABR     2-1094-004chr17:
1123324-1123324
GAintergenicDe novo--Yuen2017 G
ABR     AU4465303chr17:
1063962-1063962
GAintronicDe novo--Yuen2017 G
ABR     A21chr17:
930716-930716
CTintronicDe novo--Wu2018 G
ABR     2-1345-003chr17:
966644-966644
ACintronicDe novo--Yuen2017 G
ABR     2-1169-004chr17:
980028-980028
CTintronicDe novo--Yuen2017 G
ABR     AU050704chr17:
1086068-1086068
CTintronicDe novo--Yuen2017 G
ABR     SSC11456chr17:
916389-916389
CTexonicDe novononsynonymous SNVNM_001256847
NM_001282149
NM_001092
NM_001159746
NM_021962
c.G160A
c.G1153A
c.G1696A
c.G1669A
c.G1807A
p.V54M
p.V385M
p.V566M
p.V557M
p.V603M
21.08.258E-6Lim2017 E
ABR     1-0862-003chr17:
912809-912809
CAintronicDe novo--Yuen2017 G
ABR     1-0394-003chr17:
1130529-1130529
GAintergenicDe novo--Yuen2017 G
ABR     1-0534-006chr17:
1123375-1123375
GAintergenicDe novo--Yuen2017 G
ABR     Lim2017:44981chr17:
1003915-1003915
CTexonicDe novononsynonymous SNVNM_001092
NM_001159746
NM_021962
c.G196A
c.G169A
c.G307A
p.E66K
p.E57K
p.E103K
33.08.237E-6Lim2017 E
ABR     G01-GEA-106-HIchr17:
915893-915893
GAintronicDe novo-4.0E-4Satterstrom2020 E
ABR     11002.p1 Complex Event; expand row to view variants  De novo--Turner2016 G
Turner2016 G
ABR     1-0206-003chr17:
1007131-1007131
TCintronicDe novo--Yuen2017 G
ABR     2-0142-004chr17:
1046325-1046325
GAintronicDe novo--Yuen2017 G
ABR     2-0299-005chr17:
1036408-1036408
GAintronicDe novo--Yuen2017 G
ABR     1-0385-003chr17:
1087859-1087859
AGintronicDe novo--Yuen2017 G
ABR     14359.p1chr17:
916389-916389
CTexonicDe novononsynonymous SNVNM_001256847
NM_001282149
NM_001092
NM_001159746
NM_021962
c.G160A
c.G1153A
c.G1696A
c.G1669A
c.G1807A
p.V54M
p.V385M
p.V566M
p.V557M
p.V603M
21.08.258E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Wilfert2021 G
ABR     AU075703chr17:
1105839-1105839
TCintergenicDe novo--Yuen2017 G
ABR     AU3713301chr17:
940314-940314
CTintronicDe novo--Yuen2017 G
ABR     11142.p1chr17:
1003915-1003915
CTexonicDe novononsynonymous SNVNM_001092
NM_001159746
NM_021962
c.G196A
c.G169A
c.G307A
p.E66K
p.E57K
p.E103K
33.08.237E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Turner2017 G
Wilfert2021 G
ABR     AU4122301chr17:
997450-997451
GCGCCintronicDe novo--Yuen2017 G
ABR     ASDFI_1144chr17:
976938-976938
AGintronicDe novo-1.244E-5Satterstrom2020 E
ABR     11002.p1chr17:
1002278-1002278
CGintronicDe novo--Turner2016 G
ABR     AU1940304chr17:
934684-934684
CGintronicDe novo--Yuen2017 G
ABR     AU1795303chr17:
915638-915638
CTintronicDe novo--Yuen2017 G
ABR     1-0153-004chr17:
1123375-1123375
GAintergenicDe novo--Yuen2017 G
ABR     5-0026-003chr17:
1123534-1123534
AGintergenicDe novo--Yuen2017 G
ABR     AU4153301chr17:
966918-966918
TCintronicDe novo--Yuen2017 G
ABR     1-0079-003chr17:
1122444-1122444
ACintergenicDe novo--Yuen2017 G
ABR     2-1166-003chr17:
1042396-1042396
GAintronicDe novo--Yuen2016 G
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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