Genomic variant #0000405998

Individual ID 00177082
Chromosome 17
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.56355397G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID MPO_000007 See all 2 reported entries
Variant remarks -
Reference Papuc et al., submitted
ClinVar ID -
dbSNP ID rs28730837
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00992 View details
Owner Anaïs Begemann




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MPO NM_000250.1 +/. - c.995C>T - r.(?) p.(Ala332Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000177978 DNA SEQ-NG-I blood WES - 6 Anaïs Begemann