Variant #0000008702 (NC_000010.11:exon 6-10 deletion, BMPR1A(NM_004329.2):exon 6-10 deletion)

Individual ID 00000153
Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) exon 6-10 deletion
Reference -
DB-ID BMPR1A_000004
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Maria Laura Gonzalez-Hospital Italiano
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
BMPR1A NM_004329.2 +/+ 6-10 exon 6-10 deletion p.(?) Hetero N/A r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001807 DNA CNV;SEQ-NG Hospital Italiano de Buenos Aires Other genes tested in this panel are not informed 28-nov-2017 Multigenetic panel BMPR1A 1 Maria Laura Gonzalez-Hospital Italiano