Genomic variant #0000442822

Individual ID 00210262
Chromosome 3
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.46900980C>T
DNA change (hg38) -
Published as G>A (Val156Met)
ISCN -
DB-ID MYL3_000006 See all 2 reported entries
Variant remarks not in 300 control chromosomes
Reference PubMed: Morita 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 2/4068
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 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 +/. 4 c.466G>A pathogenic r.(?) p.(Val156Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211338 DNA SEQ - - MYL3 1 Johan den Dunnen