Genomic variant #0000187893

Individual ID 00116650
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.21899039G>A
DNA change (hg38) g.21880921G>A
Published as -
ISCN -
DB-ID MBTPS2_000019 See all 18 reported entries
Variant remarks not in 225 control chromosomes; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness.
Reference PubMed: Oeffner 2009; PubMed: Bornholdt 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site TaiI
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Karl-Heinz Grzeschik
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MBTPS2 NM_015884.3 +?/. 10 c.1286G>A - r.(?) p.Arg429His



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117149 DNA PCRdig;SEQ - - MBTPS2 1 Karl-Heinz Grzeschik