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Results for "MYO5B"

Variant Events: 56

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
MYO5B     3-0393-000chr18:
47488411-47488411
GAintronicDe novo--Trost2022 G
MYO5B     3-0454-000chr18:
47491452-47491452
GAintronicDe novo--Trost2022 G
MYO5B     1-1040-004chr18:
47469680-47469682
TACTintronicDe novo--Trost2022 G
MYO5B     MSSNG00394-003chr18:
47484594-47484594
CTintronicDe novo--Trost2022 G
MYO5B     SP0011329chr18:
47421302-47421302
TGintronicDe novo--Trost2022 G
MYO5B     5-1001-003chr18:
47466277-47466277
GAintronicDe novo--Trost2022 G
MYO5B     MSSNG00349-004chr18:
47419809-47419809
GAintronicDe novo--Trost2022 G
MYO5B     MT_18.3chr18:
47573652-47573652
TCintronicDe novo--Trost2022 G
MYO5B     1-0973-003chr18:
47457403-47457403
CGintronicDe novo--Yuen2017 G
MYO5B     1-1102-003chr18:
47596085-47596085
TCintronicDe novo--Trost2022 G
MYO5B     1-1058-004chr18:
47527347-47527347
GAintronicDe novo--Trost2022 G
MYO5B     1-0956-003chr18:
47556737-47556739
CGGATACTGCTTCCintronicDe novo--Trost2022 G
MYO5B     AU2463301chr18:
47517385-47517385
GAintronicDe novo--Trost2022 G
MYO5B     MSSNG00232-003chr18:
47524051-47524051
TCintronicDe novo--Trost2022 G
MYO5B     4-0062-003chr18:
47492598-47492600
GAGAAAintronicDe novo--Trost2022 G
MYO5B     MSSNG00345-003chr18:
47504022-47504022
AGintronicDe novo--Trost2022 G
MYO5B     4-0034-003chr18:
47710251-47710251
CTintronicDe novo--Trost2022 G
MYO5B     7-0130-003chr18:
47563443-47563443
AGintronicDe novo--Trost2022 G
Yuen2017 G
MYO5B     2-1322-003chr18:
47718582-47718582
CGAintronicDe novo--Trost2022 G
MYO5B     3-0099-001Achr18:
47682985-47682985
CTintronicDe novo--Trost2022 G
MYO5B     646-05-104479chr18:
47432983-47432983
CGexonicDe novononsynonymous SNVNM_001080467c.G2220Cp.Q740H19.52-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MYO5B     610chr18:
47704955-47704955
CTintronicDe novo--Trost2022 G
MYO5B     7-0260-003chr18:
47660625-47660625
GAintronicDe novo--Trost2022 G
MYO5B     1-0098-003Achr18:
47661796-47661796
GAintronicDe novo--Trost2022 G
MYO5B     7-0081-003chr18:
47602144-47602144
CTintronicDe novo--Trost2022 G
MYO5B     AU2462302chr18:
47628420-47628420
CTintronicDe novo--Trost2022 G
MYO5B     AU3906301chr18:
47476981-47476981
GAintronicDe novo--Trost2022 G
Yuen2017 G
MYO5B     2-0309-004chr18:
47718582-47718582
CGAintronicDe novo--Trost2022 G
MYO5B     5-0077-004chr18:
47424893-47424896
TACCTintronicDe novo--Yuen2017 G
MYO5B     13236_p1chr18:
47581662-47581662
TCexonicDe novosynonymous SNVNM_001080467c.A114Gp.L38L--Fu2022 E
MYO5B     SP0075140chr18:
47566468-47566469
TATintronicDe novo--Fu2022 E
MYO5B     1-0197-003chr18:
47671171-47671171
TCintronicDe novo--Trost2022 G
Yuen2017 G
MYO5B     80001101216chr18:
47721103-47721103
GAintronicDe novo--Satterstrom2020 E
Trost2022 G
MYO5B     5-0077-003chr18:
47424893-47424896
TACCTintronicDe novo--Yuen2017 G
MYO5B     AU031004 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
MYO5B     SP0041715chr18:
47431047-47431047
GAexonicDe novononsynonymous SNVNM_001080467c.C2566Tp.R856C14.15-Fu2022 E
Trost2022 G
Zhou2022 GE
MYO5B     13236.p1chr18:
47581662-47581662
TCexonicDe novosynonymous SNVNM_001080467c.A114Gp.L38L--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
MYO5B     AU4033303chr18:
47433431-47433431
GAintronicDe novo--Yuen2017 G
MYO5B     1-0898-003chr18:
47586764-47586764
ACintronicDe novo--Trost2022 G
Yuen2017 G
MYO5B     1-0990-003chr18:
47388892-47388892
GAintronicDe novo--Trost2022 G
Yuen2017 G
MYO5B     5-0017-004chr18:
47493794-47493794
GAintronicDe novo--Trost2022 G
Yuen2017 G
MYO5B     AU043804chr18:
47644251-47644251
GAintronicDe novo--Trost2022 G
Yuen2017 G
MYO5B     10C100577chr18:
47506898-47506898
GAexonicDe novosynonymous SNVNM_001080467c.C972Tp.S324S--DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MYO5B     AU4033305chr18:
47460641-47460641
GCintronicDe novo--Trost2022 G
Yuen2017 G
MYO5B     MCD-023-3chr18:
47352855-47352855
GAexonicPaternalnonsynonymous SNVNM_001080467c.C5533Tp.L1845F26.83.321E-5Tuncay2023 G
MYO5B     2-0016-003chr18:
47691522-47691522
TAintronicDe novo--Trost2022 G
Yuen2017 G
MYO5B     MCD-023-3chr18:
47369741-47369741
GAexonicMaternalnonsynonymous SNVNM_001080467c.C4481Tp.S1494L12.394.0E-4Tuncay2023 G
MYO5B     1-0402-003chr18:
47724756-47724760
TGATCTintergenicDe novo--Yuen2017 G
MYO5B     2-0036-003chr18:
47691522-47691522
TAintronicDe novo--Yuen2016 G
MYO5B     7-0160-003chr18:
47441647-47441647
CAintronicDe novo--Yuen2017 G
MYO5B     AU1308303chr18:
47462705-47462705
CTexonicDe novosynonymous SNVNM_001080467c.G1920Ap.L640L--Trost2022 G
Yuen2017 G
Zhou2022 GE
MYO5B     mAGRE4782chr18:
47429091-47429091
CTexonicDe novononsynonymous SNVNM_001080467c.G2684Ap.R895Q35.0-Cirnigliaro2023 G
MYO5B     mAGRE4605chr18:
47402152-47402152
TGexonicDe novononsynonymous SNVNM_001080467c.A3442Cp.K1148Q26.0-Cirnigliaro2023 G
MYO5B     2-1180-003chr18:
47379557-47379557
ACintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
MYO5B     1-0513-003chr18:
47449737-47449737
GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
MYO5B     A30chr18:
47717032-47717032
GAintronicDe novo--Wu2018 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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