Variant (rsID / SNP)

rs1130866

rs1130866 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SFTPB. Location: chromosome 2, position 85,893,741. Clinical significance in the table: Benign.

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Reference-table entries

SFTPBBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:85893741
Cytoband: 2p11.2
HGVS: NM_000542.5(SFTPB):c.392C>T (p.Thr131Ile)
Allele change: Missense_T143I

Associated conditions / phenotypes

Neonatal acute respiratory distress due to SP-B deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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