Genomic variant #0000513956

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.203407042G>A
DNA change (hg38) -
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

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