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Variant (rsID / SNP)

rs137853202

SFTPB

rs137853202 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SFTPB. Location: chromosome 2, position 85,890,937. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SFTPBConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:85890937
Cytoband
2p11.2
HGVS
NM_000542.5(SFTPB):c.706C>T (p.Arg236Cys)
Allele change
Missense_R248C

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.