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Results for "ATG2B"

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
ATG2B     1-0209-003chr14:
96828042-96828042
TCintronicDe novo--Yuen2017 G
ATG2B     AU4372309chr14:
96795775-96795775
GCintronicDe novo--Yuen2017 G
ATG2B     11223.p1chr14:
96756895-96756895
TCexonicDe novononsynonymous SNVNM_018036c.A5734Gp.I1912V22.99.893E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
ATG2B     AU3692302chr14:
96820162-96820162
TCintronicDe novo--Yuen2017 G
ATG2B     iHART1879chr14:
96773170-96773170
GAexonicMaternalstopgainNM_018036c.C4387Tp.Q1463X50.08.261E-6Ruzzo2019 G
ATG2B     11463.p1chr14:
96794738-96794738
TGexonicDe novosynonymous SNVNM_018036c.A2109Cp.T703T--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
ATG2B     2-0215-003chr14:
96780757-96780757
TTAintronicDe novo--Yuen2017 G
ATG2B     2-1292-003chr14:
96775903-96775903
CTexonicDe novononsynonymous SNVNM_018036c.G4190Ap.R1397H13.042.478E-5Yuen2015 G
Yuen2017 G
ATG2B     3-0391-000chr14:
96814526-96814526
TCintronicDe novo--Yuen2017 G
ATG2B     iHART1880chr14:
96773170-96773170
GAexonicMaternalstopgainNM_018036c.C4387Tp.Q1463X50.08.261E-6Ruzzo2019 G
ATG2B     Lim2017:68591chr14:
96794738-96794738
TGexonicDe novosynonymous SNVNM_018036c.A2109Cp.T703T--Lim2017 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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