Genomic variant #0000095638

Individual ID 00064193
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.46900970G>A
DNA change (hg38) g.46859480G>A
Published as NM_000258:c.C476T
ISCN -
DB-ID MYL3_000021 See all 2 reported entries
Variant remarks -
Reference PubMed: Lopes 2013, Journal: Lopes 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/223 cases HCM
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MYL3 NM_000258.2 ?/. - c.476C>T - r.(?) p.(Thr159Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000064326 DNA SEQ - - TTN 4 Johan den Dunnen