Genomic variant #0000036020

Individual ID 00016148
Chromosome 11
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.47357427C>T
DNA change (hg38) g.47335876C>T
Published as -
ISCN -
DB-ID MYBPC3_000501 See all 3 reported entries
Variant remarks -
Reference Vrijenhoek, submitted
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Terry Vrijenhoek




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MYBPC3 NM_000256.3 +/? 26i c.2737+1G>A - r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016270 DNA SEQ;SEQ-NG leukocyte - GLA, MYBPC3, MYL3, TTN 5 Terry Vrijenhoek