Variant #0000454404 (NC_000010.10:g.(?_88516396)_(88635843_88649818)del, BMPR1A(NM_004329.2):c.(?_-548)_(67+1_68-1)del)

Individual ID 00218465
Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_88516396)_(88635843_88649818)del
DNA change (hg38) -
Published as 5'UTR - Exon 1 del
ISCN -
DB-ID BMPR1A_000110 See all 11 reported entries
Variant remarks ACMG PVS1, PP1-S, PM2
Reference Journal: Cao 2006, Journal: Cheah 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Karl Heinimann
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BMPR1A NM_004329.2 +/+ _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000219535 DNA MLPA - screening BMPR1A 1 Karl Heinimann