Variant (rsID / SNP)

rs878853657

rs878853657 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ENG. Location: chromosome 9, position 130,588,865. 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: 9:130588865
Cytoband: 9q34.11
HGVS: NM_001114753.3(ENG):c.447G>C (p.Trp149Cys)
Allele change: Missense_W149C

Associated conditions / phenotypes

Hereditary hemorrhagic telangiectasia|See cases

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.