Genomic variant #0000302689

Chromosome 15
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.59564639C>T
DNA change (hg38) g.59272440C>T
Published as MYO1E(NM_004998.3):c.13G>A (p.G5S)
ISCN -
DB-ID MYO1E_000016
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYO1E NM_004998.3 ?/. - c.13G>A r.(?) p.(Gly5Ser)
LDHAL6B NM_033195.2 ?/. - c.*64354C>T r.(=) p.(=)