Genomic variant #0000187827

Individual ID 00116638
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.21886576T>G
DNA change (hg38) g.21868458T>G
Published as -
ISCN -
DB-ID MBTPS2_000028 See all 2 reported entries
Variant remarks patient RNA analysis and minigene construct
Reference PubMed: Oeffner 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Emmelien Aten
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MBTPS2 NM_015884.3 +/. 5i c.671-9T>G - r.671_789del p.Ile225Leufs*25



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117096 DNA;RNA PCR;RT-PCR;SEQ - - MBTPS2 1 Emmelien Aten