rs869312227 has not been reported to ClinVar. Refer to dbSNP record rs869312227 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 alleles: A, T
- Variation type: single nucleotide variation
- Organism: Homo sapiens
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GRCh38.p14: NC_000023.11: 101,397,980
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GRCh37.p13: NC_000023.10: 100,652,968
Genome Data Viewer
Source: KnownItemSensor
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GLA, RPL36A-HNRNPH2 (G373V) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
| | GLA, RPL36A-HNRNPH2 (G373D) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
Click to view in NCBI Gene