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Variant (rsID / SNP)

rs116330805

ENG

rs116330805 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ENG. Location: chromosome 9, position 130,580,575. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ENGBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
9:130580575
Cytoband
9q34.11
HGVS
NM_001114753.3(ENG):c.1510G>A (p.Val504Met)
Allele change
Missense_V504M

Associated conditions / phenotypes

Haemorrhagic telangiectasia 1|Telangiectasia, hereditary hemorrhagic, type 1|Hereditary hemorrhagic telangiectasia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.