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Variant (rsID / SNP)

rs3024809

SFTPB

rs3024809 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SFTPB. Location: chromosome 2, position 85,890,828. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SFTPBBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
2:85890828
Cytoband
2p11.2
HGVS
NM_000542.5(SFTPB):c.815G>A (p.Arg272His)
Allele change
Missense_R284H

Associated conditions / phenotypes

Neonatal acute respiratory distress due to SP-B deficiency

Public references

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