Genomic variant #0000291964

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.56348081C>T
DNA change (hg38) -
Published as MPO(NM_000250.1):c.2174G>A (p.R725Q)
ISCN -
DB-ID MPO_000001
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MPO NM_000250.1 -?/. - c.2174G>A likely benign r.(?) p.(Arg725Gln)
LPO NM_001160102.1 -?/. - c.*2726C>T likely benign r.(=) p.(=)