Variant (rsID / SNP)

rs121918400

rs121918400 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ENG. Location: chromosome 9, position 130,587,239. Clinical significance in the table: Pathogenic.

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Reference-table entries

ENGPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:130587239
Cytoband: 9q34.11
HGVS: NM_001114753.3(ENG):c.831C>G (p.Tyr277Ter)
Allele change: Nonsense_Y277X

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.