or
or
Exact

Results for "MYH14"

Variant Events: 14

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
MYH14     PN400533chr19:
50774730-50774730
CTexonicUnknownnonsynonymous SNVNM_024729
NM_001077186
NM_001145809
c.C2975T
c.C2999T
c.C3098T
p.T992M
p.T1000M
p.T1033M
17.323.0E-4Leblond2019 E
MYH14     AU072004chr19:
50757727-50757728
TATintronicDe novo--Yuen2017 G
MYH14     PN400321chr19:
50774730-50774730
CTexonicUnknownnonsynonymous SNVNM_024729
NM_001077186
NM_001145809
c.C2975T
c.C2999T
c.C3098T
p.T992M
p.T1000M
p.T1033M
17.323.0E-4Leblond2019 E
MYH14     AU076509chr19:
50762472-50762472
CGexonicDe novononsynonymous SNVNM_024729
NM_001077186
NM_001145809
c.C2181G
c.C2205G
c.C2304G
p.I727M
p.I735M
p.I768M
18.68-Yuen2017 G
MYH14     PN400543chr19:
50752378-50752378
GAexonicDe novosynonymous SNVNM_024729
NM_001077186
NM_001145809
c.G1440A
c.G1464A
c.G1464A
p.A480A
p.A488A
p.A488A
-4.675E-5Leblond2019 E
MYH14     041-07-107684chr19:
50747508-50747508
GAexonicDe novononsynonymous SNVNM_024729
NM_001077186
NM_001145809
c.G1100A
c.G1124A
c.G1124A
p.R367Q
p.R375Q
p.R375Q
15.398.338E-6Satterstrom2020 E
MYH14     2-1460-003chr19:
50726604-50726604
CTexonicDe novononsynonymous SNVNM_001077186
NM_001145809
NM_024729
c.C691T
c.C691T
c.C691T
p.P231S
p.P231S
p.P231S
12.09-Yuen2017 G
MYH14     1-0486-003chr19:
50764133-50764133
CTintronicDe novo--Yuen2017 G
MYH14     Kim2020:A3chr19:
50760600-50760600
GAexonicDe novononsynonymous SNVNM_024729
NM_001077186
NM_001145809
c.G1966A
c.G1990A
c.G2089A
p.G656S
p.G664S
p.G697S
6.9157.16E-5Kim2020 E
MYH14     SSC03680chr19:
50753076-50753076
GAexonicMosaicnonsynonymous SNVNM_024729
NM_001077186
NM_001145809
c.G1628A
c.G1652A
c.G1652A
p.R543Q
p.R551Q
p.R551Q
18.79-Lim2017 E
MYH14     PN400542chr19:
50774730-50774730
CTexonicUnknownnonsynonymous SNVNM_024729
NM_001077186
NM_001145809
c.C2975T
c.C2999T
c.C3098T
p.T992M
p.T1000M
p.T1033M
17.323.0E-4Leblond2019 E
MYH14     13720.p1chr19:
50783305-50783305
GTexonicMosaicnonsynonymous SNVNM_024729
NM_001077186
NM_001145809
c.G3921T
c.G3945T
c.G4044T
p.E1307D
p.E1315D
p.E1348D
3.401-Dou2017 E
Krupp2017 E
MYH14     04C35710chr19:
50792805-50792805
GCexonicDe novononsynonymous SNVNM_024729
NM_001077186
NM_001145809
c.G4742C
c.G4766C
c.G4865C
p.R1581P
p.R1589P
p.R1622P
23.7-Satterstrom2020 E
MYH14     11703.p1chr19:
50753076-50753076
GAexonicMosaicnonsynonymous SNVNM_024729
NM_001077186
NM_001145809
c.G1628A
c.G1652A
c.G1652A
p.R543Q
p.R551Q
p.R551Q
18.79-Krupp2017 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