Genomic variant #0000519960

Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.46902303G>T
DNA change (hg38) -
Published as MYL3(NM_000258.2):c.170C>A (p.A57D)
ISCN -
DB-ID MYL3_000019 See all 5 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Nijmegen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MYL3 NM_000258.2 +?/. - c.170C>A likely pathogenic r.(?) p.(Ala57Asp)