Genomic variant #0000042270

Individual ID 00022052
Chromosome 10
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.88635779C>A
Reference -
DB-ID BMPR1A_000051 See all 29 reported entries
dbSNP ID rs3182217
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00542
Allele Count 32
Allele Number 5900
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BMPR1A NM_004329.2 ./. - c.4C>A r.(?) p.(Pro2Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007549 DNA SEQ-NG-I 1 - 48 Stevi Xera