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Results for "A2M"

Variant Events: 7

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
A2M     1-0446-003chr12:
9245733-9245733
CTintronicDe novo--Yuen2017 G
A2M     SP0016887chr12:
9227258-9227258
CGexonicDe novosynonymous SNVNM_000014c.G3654Cp.T1218T--Feliciano2019 E
A2M     09C79867chr12:
9220801-9220801
CTexonicDe novosynonymous SNVNM_000014c.G4386Ap.E1462E--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
A2M     5-0125-003chr12:
9279056-9279056
CTintergenicDe novo--Yuen2017 G
A2M     JASD_Fam0110chr12:
9230450-9230450
GAexonicDe novosynonymous SNVNM_000014c.C3123Tp.L1041L--Takata2018 E
A2M     G01-GEA-209-HIchr12:
9230009-9230009
ACexonicDe novononsynonymous SNVNM_000014c.T3284Gp.V1095G25.5-Satterstrom2020 E
A2M     12906.p1chr12:
9225335-9225335
GAexonicDe novononsynonymous SNVNM_000014c.C3889Tp.R1297C12.216.621E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 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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