Variant (rsID / SNP)

rs786201032

rs786201032 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IFITM5. Location: chromosome 11, position 299,372. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

IFITM5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:299372
Cytoband: 11p15.5
HGVS: NM_001025295.3(IFITM5):c.119C>T (p.Ser40Leu)
Allele change: Missense_S40L

Associated conditions / phenotypes

Osteogenesis imperfecta type 5

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.