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Results for "AMY2B"

Variant Events: 9

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
AMY2B     11691.p1chr1:
104121995-104121995
GCexonicDe novononsynonymous SNVNM_020978c.G1409Cp.G470A22.5-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Zhou2022 GE
AMY2B     11841-1chr1:
104116216-104116216
GAintronicDe novo--Fu2022 E
AMY2B     AC02-1145-04chr1:
104120220-104120220
CTexonicDe novononsynonymous SNVNM_020978c.C1210Tp.R404C18.385.814E-5Fu2022 E
Lim2017 E
AMY2B     MSSNG00391-003chr1:
104109163-104109163
GAintronicDe novo--Trost2022 G
AMY2B     Lim2017:5902chr1:
104121995-104121995
GCexonicDe novononsynonymous SNVNM_020978c.G1409Cp.G470A22.5-Lim2017 E
AMY2B     5902chr1:
104121995-104121995
GCexonicDe novononsynonymous SNVNM_020978c.G1409Cp.G470A22.5-Fu2022 E
AMY2B     2-1814-003chr1:
104102692-104102692
TGintronicDe novo--Trost2022 G
AMY2B     MT_121.3chr1:
104119276-104119276
TCintronicDe novo--Trost2022 G
AMY2B     3-0360-000chr1:
104111637-104111637
TCintronicDe novo--Trost2022 G
Source Variant Information

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Source:

Paper alias:

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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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