Variant #0000701146 (NC_000014.8:g.23901922C>T, MYH7(NM_000257.2):c.428G>A)

Individual ID 00317358
Chromosome 14
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.23901922C>T
DNA change (hg38) g.23432713C>T
Published as -
ISCN -
DB-ID MYH7_000054 See all 4 reported entries
Variant remarks -
Reference PubMed: Walsh 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 5/2912 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 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.428G>A r.(?) p.(Arg143Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000318540 DNA SEQ;SEQ-NG - cardiomyopathy gene panel MYH7 1 Johan den Dunnen