Genomic variant #0000299814

Chromosome 15
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.59497600G>T
DNA change (hg38) g.59205401G>T
Published as MYO1E(NM_004998.3):c.1615C>A (p.L539M)
ISCN -
DB-ID MYO1E_000009
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) 0.001 View details
Owner VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYO1E NM_004998.3 -?/. - c.1615C>A r.(?) p.(Leu539Met)
LDHAL6B NM_033195.2 -?/. - c.-1540G>T r.(?) p.(=)