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Variant (rsID / SNP)

rs200671094

BMP4

rs200671094 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMP4. Location: chromosome 14, position 54,417,226. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BMP4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:54417226
Cytoband
14q22.2
HGVS
NM_001202.6(BMP4):c.751C>T (p.His251Tyr)
Allele change
Missense_H251Y

Associated conditions / phenotypes

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.