Variant #0000454536 (NC_000010.10:(?_88450000)_(89750000_?)del, PTEN(NM_000314.4):c.0)

Individual ID 00218597
Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) (?_88450000)_(89750000_?)del
DNA change (hg38) -
Published as >1.2Mb del BMPR1A/PTEN
ISCN -
DB-ID BMPR1A_000105 See all 5 reported entries
Variant remarks patient also carries 46,XX,t(2;10)(q31;p15)
(?_88450000)_(89750000_?)del
Reference PubMed: Delnatte 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Karl Heinimann
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PTEN NM_000314.4 ?/+ _1_9_ c.0 r.0 p.0
BMPR1A NM_004329.2 +/+ 1_13_ c.0 r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000219667 DNA FISH;PCRlr - screening BMPR1A 1 Karl Heinimann