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Results for "ZFYVE19"

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
ZFYVE19     mAGRE1747chr15:
41099938-41099946
GGTGAGGGTGexonicMaternalframeshift deletionNM_001077268
NM_001258420
c.152_159del
c.152_159del
p.G51fs
p.G51fs
--Cirnigliaro2023 G
ZFYVE19     1-0330-003chr15:
41103968-41103968
GAintronicDe novo--Trost2022 G
Yuen2017 G
ZFYVE19     iHART1747chr15:
41099938-41099946
GGTGAGGGTGexonicMaternalframeshift deletionNM_001077268
NM_001258420
c.152_159del
c.152_159del
p.G51fs
p.G51fs
--Ruzzo2019 G
ZFYVE19     SP0088506chr15:
41102487-41102487
TGintronicDe novo--Trost2022 G
ZFYVE19     SP0140738 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
ZFYVE19     SP0146418 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
ZFYVE19     mAGRE4831chr15:
41106010-41106010
GAsplicingPaternalsplicing12.234.183E-5Cirnigliaro2023 G
ZFYVE19     SP0111341chr15:
41102486-41102486
TGintronicDe novo--Trost2022 G
ZFYVE19     mAGRE4830chr15:
41106010-41106010
GAsplicingPaternalsplicing12.234.183E-5Cirnigliaro2023 G
ZFYVE19     mAGRE5344chr15:
41102144-41102144
CTexonicPaternalstopgainNM_001077268
NM_001258420
NM_001258421
NM_032850
c.C547T
c.C547T
c.C22T
c.C517T
p.R183X
p.R183X
p.R8X
p.R173X
37.08.282E-6Cirnigliaro2023 G
ZFYVE19     mAGRE5343chr15:
41102144-41102144
CTexonicPaternalstopgainNM_001077268
NM_001258420
NM_001258421
NM_032850
c.C547T
c.C547T
c.C22T
c.C517T
p.R183X
p.R183X
p.R8X
p.R173X
37.08.282E-6Cirnigliaro2023 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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