Variant #0000513956 (NC_000002.11:g.203407042G>A, BMPR2(NM_001204.6):c.1285G>A)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.203407042G>A
DNA change (hg38) g.202542319G>A
Published as BMPR2(NM_001204.6):c.1285G>A (p.(Val429Ile))
ISCN -
DB-ID BMPR2_000019
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 8.0E-5 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BMPR2 NM_001204.6 -?/. - c.1285G>A r.(?) p.(Val429Ile)