Genomic variant #0000442823

Individual ID 00210263
Chromosome 3
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.46899868G>A
DNA change (hg38) -
Published as IVS5+6C>T
ISCN -
DB-ID MYL3_000010 See all 2 reported entries
Variant remarks -
Reference PubMed: Morita 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00046 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MYL3 NM_000258.2 -?/. 5i c.559+6C>T likely benign r.= p.=



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211339 DNA;RNA RT-PCR;SEQ - - MYL3 1 Johan den Dunnen