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Results for "ASAH2"

Variant Events: 11

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
ASAH2     SP0089892chr10:
51992910-51992910
CTintronicDe novo--Fu2022 E
ASAH2     12097.p1chr10:
52000279-52000279
CTintronic12.172.0E-4Zhou2022 GE
ASAH2     1-0777-003chr10:
51978197-51978197
CTintronicDe novo--Trost2022 G
ASAH2     MSSNG00376-003chr10:
52007215-52007215
GAintronicDe novo--Trost2022 G
ASAH2     SP0160594chr10:
51972715-51972715
CTintronicDe novo--Trost2022 G
ASAH2     MSSNG00158-003chr10:
51975418-51975418
TCintronicDe novo--Trost2022 G
ASAH2     1-0224-004chr10:
52030727-52030727
GAintergenicDe novo--Yuen2017 G
ASAH2     1-0978-003chr10:
52024757-52024760
TAAATAAintergenicDe novo--Yuen2017 G
ASAH2     5431chr10:
52005130-52005130
TTGexonicDe novoframeshift insertionNM_001143974
NM_019893
c.211dupC
c.211dupC
p.Q71fs
p.Q71fs
--Fu2022 E
Trost2022 G
ASAH2     mAGRE5104chr10:
52005020-52005020
GAexonicMaternalstopgainNM_001143974
NM_019893
c.C322T
c.C322T
p.R108X
p.R108X
37.09.06E-5Cirnigliaro2023 G
ASAH2     11715.p1 Complex Event; expand row to view variants  De novoframeshift insertionNM_001143974
NM_019893
NM_001143974
NM_019893
c.211dupC
c.211dupC
c.210dupC
c.210dupC
p.Q71fs
p.Q71fs
p.Q71fs
p.Q71fs
--Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE
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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