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Results for "MYO15A"

Variant Events: 16

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
MYO15A     11494.p1chr17:
18039050-18039050
TCexonicMosaicnonsynonymous SNVNM_016239c.T4508Cp.V1503A21.6-Krupp2017 E
MYO15A     AC02-1113-01chr17:
18047280-18047280
AGexonicDe novononsynonymous SNVNM_016239c.A6143Gp.Y2048C14.07-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
MYO15A     021-07-107622chr17:
18039094-18039094
AGexonicDe novononsynonymous SNVNM_016239c.A4552Gp.I1518V8.0661.693E-5Satterstrom2020 E
MYO15A     iHART3105chr17:
18025499-18025499
CTexonicPaternalstopgainNM_016239c.C3385Tp.R1129X42.05.85E-5Ruzzo2019 G
MYO15A     iHART3103chr17:
18025499-18025499
CTexonicPaternalstopgainNM_016239c.C3385Tp.R1129X42.05.85E-5Ruzzo2019 G
MYO15A     iHART1908chr17:
18054532-18054532
ATexonicMaternalstopgainNM_016239c.A7582Tp.K2528X50.0-Ruzzo2019 G
MYO15A     SSC03418chr17:
18039965-18039965
CGexonicDe novononsynonymous SNVNM_016239c.C4744Gp.L1582V11.07-Lim2017 E
MYO15A     SP0019630chr17:
18039887-18039887
GAexonicDe novononsynonymous SNVNM_016239c.G4666Ap.A1556T28.33.322E-5Feliciano2019 E
MYO15A     1-0286-003chr17:
18049226-18049226
GAexonicDe novononsynonymous SNVNM_016239c.G6314Ap.R2105Q1.9162.556E-5Yuen2015 G
MYO15A     SP0022669chr17:
18025668-18025668
GAexonicDe novononsynonymous SNVNM_016239c.G3554Ap.C1185Y10.08-Feliciano2019 E
MYO15A     7-0191-003chr17:
18076761-18076761
AGintronicDe novo--Yuen2017 G
MYO15A     SAGA-96chr17:
18058028-18058028
GAexonicnonsynonymous SNVNM_016239c.G8183Ap.R2728H26.92.0E-4Doan2019 E
MYO15A     1335011chr17:
18036528-18036528
CTintronicDe novo--Satterstrom2020 E
MYO15A     11693.p1chr17:
18039965-18039965
CGexonicDe novononsynonymous SNVNM_016239c.C4744Gp.L1582V11.07-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
MYO15A     SAGA-96chr17:
18044441-18044441
CTexonicstopgainNM_016239c.C5515Tp.Q1839X46.01.0E-4Doan2019 E
MYO15A     AU2023302chr17:
18026910-18026910
GAintronicDe novo--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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