rs864321642 has not been reported to ClinVar. Refer to dbSNP record rs864321642 for details on variation at this location. Please consider submitting your interpretation of this variant to ClinVar
Genetic variation
- Clinical significance: not reported in ClinVar
- Reference allele: T
- Variation alleles: A, C, G
- Variation type: single nucleotide variation
- Organism: Homo sapiens
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GRCh38.p14: NC_000003.12: 10,149,831
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GRCh37.p13: NC_000003.11: 10,191,515
Genome Data Viewer
Source: KnownItemSensor
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC107303340, VHL (V170D +1 more) | Single nucleotide variant (missense variant +1 more) | Von Hippel-Lindau syndrome +2 more | GPathogenic/Likely pathogenic |
| | LOC107303340, VHL (V170A +1 more) | Single nucleotide variant (missense variant +1 more) | Pheochromocytoma | |
Click to view in NCBI Gene