Variant #0000454537 (NC_000010.10:g.(97000001_99300000)_qterdelins[NC_000009.11:pter_(4600001_9000000)inv], BMPR1A(NM_004329.2):c.0)

Individual ID 00218598
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.(97000001_99300000)_qterdelins[NC_000009.11:pter_(4600001_9000000)inv]
DNA change (hg38) -
Published as -
ISCN 46,XY,der(9)t(9;10)(p24.1;q24.1), der(10)del(10)(q23.2q24.1)t(9;10)(p24.1;q23.2)
DB-ID BMPR1A_000105 See all 5 reported entries
Variant remarks ACMG PVS1, PS2
Reference PubMed: Zigman 1997
ClinVar ID -
dbSNP ID -
Origin De novo
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     
BMPR1A NM_004329.2 +/+ _1_13_ c.0 r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000219668 DNA microscope - screening BMPR1A 4 Karl Heinimann