Genomic variant #0000442836

Individual ID 00210275
Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.46904812G>A
DNA change (hg38) -
Published as Pro23Pro
ISCN -
DB-ID MYL3_000014 See all 5 reported entries
Variant remarks present in controls
Reference PubMed: Kabaeva 2002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01668 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 -/. 1 c.69C>T benign r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211351 DNA PCR;SEQ;SSCA - - MYL3 1 Johan den Dunnen