Variant (rsID / SNP)
rs587776446
rs587776446 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HTRA1. Location: chromosome 10, position 124,266,283. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
HTRA1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:124266283
- Cytoband
- 10q26.13
- HGVS
- NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu)
- Allele change
- Missense_P285L
Associated conditions / phenotypes
CARASIL syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.