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Results for "ZFYVE9"

Variant Events: 13

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
ZFYVE9     11069.p1chr1:
52704550-52704550
TGexonicDe novosynonymous SNVNM_004799
NM_007324
c.T1461G
c.T1461G
p.G487G
p.G487G
--Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
ZFYVE9     AU3692301chr1:
52682284-52682284
TCintronicDe novo--Yuen2017 G
ZFYVE9     14270.p1chr1:
52729524-52729524
GAexonicMosaic, De novononsynonymous SNVNM_004799
NM_007324
c.G2258A
c.G2258A
p.C753Y
p.C753Y
25.6-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
ZFYVE9     AU063004chr1:
52790544-52790544
CTintronicDe novo--Yuen2017 G
ZFYVE9     AU072504chr1:
52750361-52750361
GAintronicDe novo--Yuen2017 G
ZFYVE9     1-0032-003chr1:
52799243-52799248
AGAGGCAintronicDe novo--Yuen2017 G
ZFYVE9     2-1357-003chr1:
52642470-52642470
GTintronicDe novo--Yuen2017 G
ZFYVE9     11409.p1chr1:
52729428-52729428
CCCGintronicDe novo-2.0E-4Krumm2015 E
ZFYVE9     1-0976-003chr1:
52754945-52754945
CTintronicDe novo--Yuen2017 G
ZFYVE9     1-0120-003chr1:
52633587-52633587
TCintronicDe novo--Yuen2017 G
ZFYVE9     Lim2017:5323chr1:
52704550-52704550
TGexonicDe novosynonymous SNVNM_004799
NM_007324
c.T1461G
c.T1461G
p.G487G
p.G487G
--Lim2017 E
ZFYVE9     PN400326chr1:
52810458-52810458
GAexonicUnknownnonsynonymous SNVNM_007324
NM_004799
c.G3781A
c.G3958A
p.D1261N
p.D1320N
20.37.0E-4Leblond2019 E
ZFYVE9     SSC10984chr1:
52729524-52729524
GAexonicDe novononsynonymous SNVNM_004799
NM_007324
c.G2258A
c.G2258A
p.C753Y
p.C753Y
25.6-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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