Variant (rsID / SNP)

rs730880096

rs730880096 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ENG. Location: chromosome 9, position 130,592,067. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ENGLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:130592067
Cytoband: 9q34.11
HGVS: NM_001114753.3(ENG):c.259C>T (p.Gln87Ter)
Allele change: Nonsense_Q87X

Associated conditions / phenotypes

Telangiectasia, hereditary hemorrhagic, type 1

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.