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Variant (rsID / SNP)

rs4715

BMP1SFTPC

rs4715 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMP1, SFTPC. Location: chromosome 8, position 22,021,037. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

BMP1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
8:22021037
Cytoband
8p21.3
HGVS
NM_001317778.2(SFTPC):c.413C>A (p.Thr138Asn)
Allele change
Missense_T85N

Associated conditions / phenotypes

Pulmonary Surfactant Metabolism Dysfunction, Dominant|Osteogenesis Imperfecta, Recessive|Idiopathic Pulmonary Fibrosis|Surfactant metabolism dysfunction, pulmonary, 2

Public references

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