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Results for "MYO5C"

Variant Events: 23

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
MYO5C     1-0172-005chr15:
52503083-52503083
GAintronicDe novo--Trost2022 G
MYO5C     13235.p1chr15:
52571711-52571711
TCexonicnonsynonymous SNVNM_018728c.A299Gp.Y100C24.9-Zhou2022 GE
MYO5C     REACH000293chr15:
52524041-52524041
TGintronicDe novo--Trost2022 G
MYO5C     iHART3111chr15:
52539731-52539731
GCexonicPaternalstopgainNM_018728c.C1805Gp.S602X36.0-Ruzzo2019 G
MYO5C     1-0018-003chr15:
52503083-52503083
GAintronicDe novo--Trost2022 G
MYO5C     3-0307-000chr15:
52535497-52535497
CTintronicDe novo--Trost2022 G
Yuen2017 G
MYO5C     11329_p1chr15:
52521349-52521349
CTexonicDe novononsynonymous SNVNM_018728c.G3188Ap.R1063H8.5061.658E-5Fu2022 E
MYO5C     111505chr15:
52517663-52517665
CATCexonicDe novoframeshift deletionNM_018728c.3272_3273delp.H1091fs-8.282E-6Fu2022 E
MYO5C     11329.p1chr15:
52521349-52521349
CTexonicDe novononsynonymous SNVNM_018728c.G3188Ap.R1063H8.5061.658E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
MYO5C     SP0100138chr15:
52511930-52511930
TGintronicDe novo--Fu2022 E
MYO5C     mAGRE3111chr15:
52539731-52539731
GCexonicPaternalstopgainNM_018728c.C1805Gp.S602X36.0-Cirnigliaro2023 G
MYO5C     13571.p1chr15:
52521530-52521530
AGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
MYO5C     SP0072352chr15:
52500760-52500760
GAexonicDe novosynonymous SNVNM_018728c.C4377Tp.S1459S-1.657E-5Fu2022 E
Trost2022 G
Zhou2022 GE
MYO5C     mAGRE4523chr15:
52534250-52534250
GAexonicMaternalstopgainNM_018728c.C2551Tp.R851X40.03.454E-5Cirnigliaro2023 G
MYO5C     12046.p1chr15:
52571742-52571742
GAexonicDe novononsynonymous SNVNM_018728c.C268Tp.R90C34.08.283E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE
MYO5C     AU2310301chr15:
52559761-52559761
TAintronicDe novo--Trost2022 G
MYO5C     NDAR_INVHV043VE2_wes1chr15:
52503888-52503888
GTintronicDe novo--Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
MYO5C     1-1182-003chr15:
52533378-52533378
TCintronicDe novo--Trost2022 G
MYO5C     7-0292-004Achr15:
52546777-52546777
GAintronicDe novo--Trost2022 G
MYO5C     ASDFI_1029chr15:
52527924-52527924
CTexonicDe novononsynonymous SNVNM_018728c.G2905Ap.E969K3.7633.316E-5Lim2017 E
MYO5C     SSC04138chr15:
52571742-52571742
GAexonicDe novononsynonymous SNVNM_018728c.C268Tp.R90C34.08.283E-6Fu2022 E
Lim2017 E
Trost2022 G
MYO5C     AU1848302chr15:
52585623-52585623
CTintronicDe novo--Trost2022 G
Yuen2017 G
MYO5C     2-1152-003chr15:
52507567-52507567
CTintronicDe novo--Yuen2016 G
Yuen2017 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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