Genomic variant #0000041083

Individual ID 00019756
Chromosome 10
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_88516426)_(88516683_88598727)
Reference -
DB-ID BMPR1A_000049 See all 2 reported entries
dbSNP ID -
Variant remarks Deletion extending exon 1 of a transcript, which is transcribed, but not translated. According to HGVS it is┬árecommended to describe it only using genomic coordinates.
HGVS description is probe-based.
Genetic origin Germline
Segregation -
Also Known As BMPR1A exon 1 deletion
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Average frequency in greek population Genomic location of variant could not be determined
Allele Count 1
Allele Number 5752
Owner Despoina Kalfakakou




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BMPR1A NM_004329.2 +/+ 1 c.(?) r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006125 DNA MLPA 0 BMPR1A 1 Despoina Kalfakakou