Genomic variant #0000291963

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.56348226T>G
DNA change (hg38) -
Published as MPO(NM_000250.1):c.2031-2A>C
ISCN -
DB-ID MPO_000004 See all 6 reported entries
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) 0.00523 View details
Owner VKGL-NL_Rotterdam




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MPO NM_000250.1 +/. - c.2031-2A>C pathogenic r.spl? p.?
LPO NM_001160102.1 +/. - c.*2871T>G pathogenic r.(=) p.(=)