or
or
Exact

Results for "MYO1E"

Variant Events: 30

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
MYO1E     1-0555-003chr15:
59464993-59464993
TCintronicDe novo--Yuen2017 G
MYO1E     1-0885-003chr15:
59674330-59674330
CTintergenicDe novo--Yuen2017 G
MYO1E     1-0126-004chr15:
59480414-59480414
CGexonicDe novononsynonymous SNVNM_004998c.G1807Cp.V603L32.0-Yuen2017 G
MYO1E     AU1635302chr15:
59432601-59432601
GAintronicDe novo--Yuen2017 G
MYO1E     2-1146-003chr15:
59663897-59663897
GAintronicDe novo--Yuen2017 G
MYO1E     iHART1568chr15:
59519791-59519791
TCsplicingMaternalsplicing19.21-Ruzzo2019 G
MYO1E     NDAR_INVUZ464WLX_wes1chr15:
59497733-59497733
ACintronicDe novo-2.0E-4Kosmicki2017 E
Satterstrom2020 E
MYO1E     2-1689-003chr15:
59533537-59533537
AGintronicDe novo--Yuen2017 G
MYO1E     NDAR_INVYN810UMB_wes1chr15:
59497733-59497733
ACintronicDe novo-2.0E-4Kosmicki2017 E
Satterstrom2020 E
MYO1E     2-1352-003chr15:
59485333-59485333
CGintronicDe novo--Yuen2016 G
Yuen2017 G
MYO1E     3-0065-000chr15:
59464117-59464117
CTexonicDe novononsynonymous SNVNM_004998c.G2459Ap.R820Q11.92.471E-5Yuen2017 G
MYO1E     AU4235303chr15:
59439103-59439103
GAintronicDe novo--Yuen2017 G
MYO1E     2-1265-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
MYO1E     08C76039chr15:
59466149-59466149
AGintronicDe novo--Satterstrom2020 E
MYO1E     5-0140-003chr15:
59623258-59623258
GAintronicDe novo--Yuen2017 G
MYO1E     SX0028.p1chr15:
59464193-59464193
CTexonicUnknownnonsynonymous SNVNM_004998c.G2383Ap.G795R31.05.0E-4Guo2018 T
MYO1E     AU1860302chr15:
59482333-59482333
AGintronicDe novo--Yuen2017 G
MYO1E     2-1264-003chr15:
59519483-59519483
GTintronicDe novo--Yuen2016 G
Yuen2017 G
MYO1E     2-0007-004chr15:
59675091-59675091
CTintergenicDe novo--Yuen2017 G
MYO1E     AU3053302chr15:
59472675-59472675
TCintronicDe novo--Yuen2017 G
MYO1E     80001102148chr15:
59466355-59466355
GAexonicDe novononsynonymous SNVNM_004998c.C2134Tp.R712W18.248.241E-6Lim2017 E
Satterstrom2020 E
MYO1E     A16chr15:
59678397-59678406
ATTCCATCTCAintergenicDe novo--Wu2018 G
MYO1E     Chen2017:102chr15:
59487682-59487682
GAexonicDe novononsynonymous SNVNM_004998c.C1783Tp.P595S16.31-Chen2017 E
MYO1E     2-0273-003chr15:
59593113-59593113
CCTAGAintronicDe novo--Yuen2017 G
MYO1E     11577.p1chr15:
59430484-59430484
GAexonicDe novostopgainNM_004998c.C3163Tp.Q1055X45.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
MYO1E     14248.p1chr15:
59506918-59506918
GCexonicDe novononsynonymous SNVNM_004998c.C1109Gp.S370C14.8-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
MYO1E     AU4378301chr15:
59579145-59579145
GAintronicDe novo--Yuen2017 G
MYO1E     13910.p1chr15:
59516914-59516914
CTexonicMosaic, De novononsynonymous SNVNM_004998c.G751Ap.D251N35.01.648E-5Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Turner2017 G
MYO1E     AU3053301chr15:
59671384-59671384
AGintergenicDe novo--Yuen2017 G
MYO1E     Lim2017:68631chr15:
59430484-59430484
GAexonicDe novostopgainNM_004998c.C3163Tp.Q1055X45.0-Lim2017 E
Source Variant Information

, -

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
More