Genomic variant #0000405999

Individual ID 00177082
Chromosome 17
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.56356502A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID MPO_000012
Variant remarks -
Reference Papuc et al., submitted
ClinVar ID -
dbSNP ID rs56378716
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00946 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.752T>C - r.(?) p.(Met251Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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