Variant (rsID / SNP)

rs138193444

rs138193444 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SERPINH1. Location: chromosome 11, position 75,279,883. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SERPINH1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 11:75279883
Cytoband: 11q13.5
HGVS: NM_001235.5(SERPINH1):c.721+9T>C
Allele change: Silent

Associated conditions / phenotypes

Osteogenesis imperfecta type 10|Osteogenesis imperfecta

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.