Variant (rsID / SNP)
rs201966419
rs201966419 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAV1. Location: chromosome 7, position 116,199,304. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CAV1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:116199304
- Cytoband
- 7q31.2
- HGVS
- NM_001753.5(CAV1):c.500T>C (p.Phe167Ser)
- Allele change
- Missense_F167S
Associated conditions / phenotypes
Pulmonary hypertension, primary, 3|Monogenic diabetes
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.