Variant #0000258686 (NC_000002.11:g.203420712G>A, BMPR2(NM_001204.6):c.2324G>A)

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.203420712G>A
DNA change (hg38) g.202555989G>A
Published as BMPR2(NM_001204.6):c.2324G>A (p.S775N)
ISCN -
DB-ID BMPR2_000001 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.02568 View details
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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