Annotation Detail
Information
- Associated Genes
- BMPR1B
- Associated Variants
-
BMPR1B p.Phe272Val (p.F272V)
(
ENST00000264568.8,
ENST00000394931.1,
ENST00000440890.7,
ENST00000509540.6,
ENST00000515059.6,
ENST00000672698.1 )
BMPR1B p.Phe272Val (p.F272V) ( ENST00000264568.8, ENST00000394931.1, ENST00000440890.7, ENST00000509540.6, ENST00000515059.6, ENST00000672698.1 ) - Associated Disease
- Acromesomelic dysplasia 3 Type A2 brachydactyly
- Source Database
- ClinVar
- Description
- NM_001203.3(BMPR1B):c.724T>G (p.Phe242Val) AND multiple conditions
- ClinVar Allele ID
- 829538
- ClinVar RefSeq Alternation Syntax
- NM_001256792.2:c.724T>G
- ClinVar RefSeq Alternation Syntax
- NM_001256794.1:c.724T>G
- ClinVar RefSeq Alternation Syntax
- NM_001256793.2:c.814T>G
- ClinVar RefSeq Alternation Syntax
- NM_001203.3:c.724T>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-01-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001054942
- ClinVar Disease
- Type A2 brachydactyly
- ClinVar Disease
- Acromesomelic dysplasia 3
- Observed Origin Sample
- germline
Drugs