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Results for "ABHD3"

Variant Events: 12

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
ABHD3     MSSNG00363-003chr18:
19260911-19260911
ACintronicDe novo--Trost2022 G
ABHD3     3-0392-000chr18:
19241535-19241535
TGintronicDe novo--Trost2022 G
Yuen2016 G
ABHD3     AU2303301chr18:
19259109-19259109
GCintronicDe novo--Trost2022 G
ABHD3     2-1076-004chr18:
19260556-19260556
CAintronicDe novo--Trost2022 G
ABHD3     12479.p1chr18:
19306613-19306615
GACGintergenicDe novo--Werling2018 G
ABHD3     2-0238-004chr18:
19242128-19242128
ATintronicDe novo--Trost2022 G
ABHD3     2-0238-004chr18:
19242138-19242138
CTintronicDe novo--Trost2022 G
ABHD3     AU4012302chr18:
19241279-19241279
TCintronicDe novo--Yuen2017 G
ABHD3     11371.p1chr18:
19239221-19239221
GAexonicnonsynonymous SNVNM_001308257
NM_001308256
NM_138340
c.C167T
c.C593T
c.C752T
p.T56I
p.T198I
p.T251I
11.79-Zhou2022 GE
ABHD3     2-0238-004chr18:
19242118-19242119
TGCintronicDe novo--Trost2022 G
ABHD3     SP0007038chr18:
19244232-19244232
ATintronicDe novo--Fu2022 E
ABHD3     AU2075302chr18:
19231647-19231648
GAGexonicMaternalframeshift deletionNM_001308257
NM_001308256
NM_138340
c.549delT
c.975delT
c.1134delT
p.F183fs
p.F325fs
p.F378fs
--Cirnigliaro2023 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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