rs1064651 has not been reported to ClinVar. Refer to dbSNP record rs1064651 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: C
- Variation allele: G
- Variation type: single nucleotide variation
- Organism: Homo sapiens
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GRCh38.p14: NC_000001.11: 155,235,726
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GRCh37.p13: NC_000001.10: 155,205,517
Genome Data Viewer
Source: KnownItemSensor
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GBA1, LOC106627981 (D448H +5 more) | Single nucleotide variant (missense variant) | Gaucher disease type II +1 more | |
| | GBA1, LOC106627981 (D448H +2 more) | Single nucleotide variant (missense variant) | not provided +9 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene