Genomic variant #0000286642

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.56356914T>C
DNA change (hg38) -
Published as MPO:c.518A>G (Y173C)
ISCN -
DB-ID MPO_000009
Variant remarks VKGL data sharing initiative Nederland; correct HGVS to be checked
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00031 View details
Owner VKGL-NL_Utrecht




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MPO NM_000250.1 +/. - c.518A>G pathogenic r.(?) p.(Tyr173Cys)