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Variant (rsID / SNP)

rs142896669

ENG

rs142896669 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ENG. Location: chromosome 9, position 130,580,452. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ENGConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:130580452
Cytoband
9q34.11
HGVS
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)
Allele change
Missense_G545S

Associated conditions / phenotypes

Hereditary hemorrhagic telangiectasia|Pulmonary hypertension, primary, 1|Pulmonary arterial hypertension associated with congenital heart disease|Telangiectasia, hereditary hemorrhagic, type 1

Public references

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