rs80338785 has not been reported to ClinVar. Refer to dbSNP record rs80338785 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: G
- Variation alleles: A, C, T
- Variation type: single nucleotide variation
- Organism: Homo sapiens
-
GRCh38.p14: NC_000017.11: 63,959,269
-
GRCh37.p13: NC_000017.10: 62,036,629
Genome Data Viewer
Source: KnownItemSensor
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Hypokalemic periodic paralysis, type 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Familial hyperkalemic periodic paralysis | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
Click to view in NCBI Gene