Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs17563

BMP4

rs17563 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMP4. Location: chromosome 14, position 54,417,522. Clinical significance in the table: Benign/Likely benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

BMP4Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
14:54417522
Cytoband
14q22.2
HGVS
NM_001202.6(BMP4):c.455T>C (p.Val152Ala)
Allele change
Missense_V152A

Associated conditions / phenotypes

Cleft Lip +/- Cleft Palate, Autosomal Dominant|Orofacial cleft 11|Microphthalmia with brain and digit anomalies|Microphthalmia with brain and digit anomalies|Orofacial cleft 11

Public references

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