Variant #0000454514 (NC_000010.10:g.(?_88516396)_(88598737_88635623)del, BMPR1A(NM_004329.2):c.(?_-548)_(-153+1_-152-1)del)

Individual ID 00218575
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)_(88598737_88635623)del
DNA change (hg38) -
Published as del promotor B_ex2
ISCN -
DB-ID BMPR1A_000109 See all 14 reported entries
Variant remarks ACMG PVS1, PP1-S
Reference Journal: Calva-Cerqueira 2010
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_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000219645 DNA MLPA - screening BMPR1A 1 Karl Heinimann