Variant #0000078839 (NC_000010.10:g.88635776A>C, BMPR1A(NM_004329.2):c.1A>C)

Individual ID 00050005
Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Affects function
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.88635776A>C
DNA change (hg38) g.86876019A>C
Published as M1L
ISCN -
DB-ID BMPR1A_000059
Variant remarks -
Reference PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009
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 Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BMPR1A NM_004329.2 ?/+ 3 c.1A>C r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000049925 DNA PCR;SEQ - screening BMPR1A 1 Global Variome, with Curator vacancy