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Results for "CMYA5"

Variant Events: 13

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
CMYA5     161-06-106020chr5:
79026014-79026014
AGexonicDe novononsynonymous SNVNM_153610c.A1426Gp.T476A9.535-Satterstrom2020 E
CMYA5     2-1408-003chr5:
79194149-79194149
GAintergenicDe novo--Yuen2017 G
CMYA5     2-1267-003chr5:
79135753-79135753
CTintergenicDe novo--Yuen2017 G
CMYA5     AU3399303chr5:
79025668-79025676
ACAGTCAGTACAGTexonicDe novoframeshift deletionNM_153610c.1085_1088delp.S362fs--Yuen2017 G
CMYA5     iHART1747chr5:
79028841-79028842
AGAexonicPaternalframeshift deletionNM_153610c.4254delGp.K1418fs-8.528E-6Ruzzo2019 G
CMYA5     AU4283301chr5:
79106041-79106041
ACintergenicDe novo--Yuen2017 G
CMYA5     11436.p1chr5:
79095431-79095431
CGexonicMosaic, De novononsynonymous SNVNM_153610c.C12202Gp.H4068D19.36-Dou2017 E
Ji2016 E
Krumm2015 E
CMYA5     150561chr5:
79086889-79086889
CTexonicDe novononsynonymous SNVNM_153610c.C11786Tp.T3929M17.64-Satterstrom2020 E
CMYA5     AU4164301chr5:
79179787-79179787
AGintergenicDe novo--Yuen2017 G
CMYA5     1-0004-003chr5:
79034662-79034662
CTexonicDe novosynonymous SNVNM_153610c.C10074Tp.H3358H-1.659E-5Yuen2017 G
CMYA5     AU2333302chr5:
79192177-79192177
TCintergenicDe novo--Yuen2017 G
CMYA5     AU075803chr5:
79023121-79023121
CTintronicDe novo--Yuen2017 G
CMYA5     1-0906-003chr5:
79210932-79210932
GAintergenicDe 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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