Genomic variant #0000472378

Individual ID 00229666
Chromosome 17
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.7489315T>C
DNA change (hg38) g.7585997T>C
Published as -
ISCN -
DB-ID MPDU1_000001
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site TaqI+
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gert Matthijs
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MPDU1 NM_004870.3 +/+ 3 c.221T>C r.(?) p.(Leu74Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000230759 DNA SEQ - - MPDU1 1 Gert Matthijs