Variant #0000701142 (NC_000014.8:g.23902781C>T, MYH7(NM_000257.2):c.161G>A)

Individual ID 00317354
Chromosome 14
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.23902781C>T
DNA change (hg38) g.23433572C>T
Published as -
ISCN -
DB-ID MYH7_000780 See all 2 reported entries
Variant remarks -
Reference PubMed: Walsh 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/2912 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYH7 NM_000257.2 ?/. - c.161G>A r.(?) p.(Arg54Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000318536 DNA SEQ;SEQ-NG - cardiomyopathy gene panel MYH7 1 Johan den Dunnen