Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs200035802

BMPR1B

rs200035802 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR1B. Location: chromosome 4, position 96,025,667. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

BMPR1BConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:96025667
Cytoband
4q22.3
HGVS
NM_001203.3(BMPR1B):c.92G>A (p.Arg31His)
Allele change
Missense_R31H

Associated conditions / phenotypes

Brachydactyly|Acromesomelic dysplasia 3|Brachydactyly type A2

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.