Genomic variant #0000299818

Chromosome 15
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.59453144G>A
DNA change (hg38) g.59160945G>A
Published as MYO1E(NM_004998.3):c.2785+128C>T
ISCN -
DB-ID MYO1E_000004
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_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYO1E NM_004998.3 -/. - c.2785+128C>T r.(=) p.(=)
LDHAL6B NM_033195.2 -/. - c.-45996G>A r.(?) p.(=)