Genomic variant #0000292786

Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.46902251C>T
DNA change (hg38) g.46860761C>T
Published as MYL3(NM_000258.2):c.222G>A (p.G74=)
ISCN -
DB-ID MYL3_000048
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYL3 NM_000258.2 -/. - c.222G>A r.(?) p.(Gly74=)