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

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 -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2015-09-16 16:41:54 +02:00 (CEST)
Date last edited 2019-01-25 19:10:23 +01:00 (CET)
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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


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