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Results for "ALS2"

Variant Events: 13

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
ALS2     AU3702307chr2:
202617365-202617365
TCintronicDe novo--Yuen2017 G
ALS2     2-0149-005chr2:
202631198-202631198
AGintronicDe novo--Yuen2017 G
ALS2     5-0017-003chr2:
202631245-202631245
AGintronicDe novo--Yuen2017 G
ALS2     2-1169-004chr2:
202612179-202612179
CTintronicDe novo--Yuen2017 G
ALS2     2-0242-004chr2:
202631245-202631245
AGintronicDe novo--Yuen2017 G
ALS2     11547.p1chr2:
202571654-202571654
GAexonicDe novononsynonymous SNVNM_020919c.C4495Tp.R1499C22.44.15E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
ALS2     2-1275-003chr2:
202579857-202579857
GAintronicDe novo--Yuen2017 G
ALS2     2-1292-003chr2:
202664608-202664608
CTintergenicDe novo--Yuen2017 G
ALS2     DEASD_0250_001chr2:
202569184-202569184
GAexonicDe novononsynonymous SNVNM_020919c.C4831Tp.R1611W34.02.497E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ALS2     SSC02327chr2:
202571654-202571654
GAexonicDe novononsynonymous SNVNM_020919c.C4495Tp.R1499C22.44.15E-5Lim2017 E
ALS2     iHART2490chr2:
202582908-202582908
TAexonicDe novononsynonymous SNVNM_020919c.A3728Tp.D1243V25.8-Ruzzo2019 G
ALS2     AU2975301chr2:
202624288-202624288
AGUTR3De novo--Yuen2017 G
ALS2     AU4212303chr2:
202628582-202628582
GAintronicDe 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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