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Results for "ALS2CL"

Variant Events: 10

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
ALS2CL     14356.p1chr3:
46713365-46713365
CTintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
ALS2CL     iHART1884chr3:
46725293-46725293
ATexonicMaternalstopgainNM_001190707
NM_147129
c.T891A
c.T891A
p.C297X
p.C297X
34.0-Ruzzo2019 G
ALS2CL     iHART1470chr3:
46717156-46717156
ACexonicPaternalstopgainNM_182775
NM_001190707
NM_147129
c.T248G
c.T2207G
c.T2207G
p.L83X
p.L736X
p.L736X
31.08.254E-6Ruzzo2019 G
ALS2CL     ASDFI_223chr3:
46716031-46716031
CTintronicDe novo-2.0E-4Satterstrom2020 E
ALS2CL     Cukier2014:17545chr3:
46712490-46712490
GAexonicUnknownnonsynonymous SNVNM_182775
NM_001190707
NM_147129
c.C887T
c.C2846T
c.C2846T
p.S296F
p.S949F
p.S949F
14.410.0176Cukier2014 E
ALS2CL     iHART2442chr3:
46713672-46713673
TCTexonicPaternalframeshift deletionNM_182775
NM_001190707
NM_147129
c.532delG
c.2491delG
c.2491delG
p.D178fs
p.D831fs
p.D831fs
--Ruzzo2019 G
ALS2CL     iHART2440chr3:
46713672-46713673
TCTexonicPaternalframeshift deletionNM_182775
NM_001190707
NM_147129
c.532delG
c.2491delG
c.2491delG
p.D178fs
p.D831fs
p.D831fs
--Ruzzo2019 G
ALS2CL     2-0018-004chr3:
46733164-46733164
CAintronicDe novo--Yuen2017 G
ALS2CL     Cukier2014:17122chr3:
46719860-46719860
TCexonicUnknownnonsynonymous SNVNM_001190707
NM_147129
c.A1646G
c.A1646G
p.N549S
p.N549S
17.317.0E-4Cukier2014 E
ALS2CL     SP0000854chr3:
46728480-46728480
AGexonicDe novononsynonymous SNVNM_001190707
NM_147129
c.T527C
c.T527C
p.I176T
p.I176T
6.4563.0E-4Feliciano2019 E
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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