Genomic variant #0000554956

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.59564554T>C
DNA change (hg38) g.59272355T>C
Published as MYO1E(NM_004998.3):c.98A>G (p.N33S)
ISCN -
DB-ID LDHAL6B_000003
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
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.98A>G r.(?) p.(Asn33Ser)
LDHAL6B NM_033195.2 -/. - c.*64269T>C r.(=) p.(=)