Genomic variant #0000000848

Individual ID 00000015
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.203420712G>A
DNA change (hg38) g.202555989G>A
Published as -
ISCN -
DB-ID BMPR2_000001 See all 4 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.02568 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
BMPR2 NM_001204.6 ?/. 12 c.2324G>A - r.(?) p.(Ser775Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000015 DNA SEQ-NG - - ALG6, ARSB, ATP7B, BMPR2, DPYD, ETFB, GALC, GLB1, NHLRC1, NPHS1, SERPINA1, TGM1 11 LOVD-team, but with Curator vacancy