Gene entry
BMP4
bone morphogenetic protein 4
- Chromosome
- 14
- Cytoband
- 14q22.2
- Variants (rsID)
- 11
BMP4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q22.2). Its official name is “bone morphogenetic protein 4”. The reference table lists 11 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs17563Benignsingle nucleotide variantCleft Lip +/- Cleft Palate, Autosomal Dominant|Orofacial cleft 11|Microphthalmia with brain and digit anomalies|Microphthalmia with brain and digit anomalies|Orofacial cleft 11
- rs121912767Conflicting interpretationssingle nucleotide variantOrofacial cleft 11|Microphthalmia with brain and digit anomalies|Microphthalmia with brain and digit anomalies|Orofacial cleft 11
- rs182373336Conflicting interpretationssingle nucleotide variantMicrophthalmia with brain and digit anomalies|Orofacial cleft 11
- rs200671094Conflicting interpretationssingle nucleotide variantMicrophthalmia with brain and digit anomalies|Microphthalmia with brain and digit anomalies|Orofacial cleft 11
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
