Genomic variant #0000292788

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.46902226C>T
DNA change (hg38) -
Published as MYL3:c.247G>A (V83M)
ISCN -
DB-ID MYL3_000046
Variant remarks VKGL data sharing initiative Nederland; correct HGVS to be checked
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_AMC




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MYL3 NM_000258.2 -/. - c.247G>A benign - -