Variant (rsID / SNP)

rs886039505

rs886039505 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ENG. Location: chromosome 9, position 130,591,965. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ENGPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:130591965
Cytoband: 9q34.11
HGVS: NM_001114753.3(ENG):c.360+1G>A
Allele change: Silent

Associated conditions / phenotypes

Telangiectasia, hereditary hemorrhagic, type 1|Hereditary hemorrhagic telangiectasia

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.