rs33950507 has not been reported to ClinVar. Refer to dbSNP record rs33950507 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, G, T
- Variation type: single nucleotide variation
- Organism: Homo sapiens
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GRCh38.p14: NC_000011.10: 5,226,942
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GRCh37.p13: NC_000011.9: 5,248,172
Genome Data Viewer
Source: KnownItemSensor
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HBB, LOC107133510
+2 more (E122Q +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN T (CAMBODIA) | |
| | HBB, LOC106099062
+1 more (E27*) | Single nucleotide variant (nonsense) | Hemoglobinopathy +2 more | |
| | HBB, LOC106099062
+1 more (E27K) | Single nucleotide variant (missense variant) | Inborn genetic diseases +15 more | |
| | | Deletion (frameshift variant +1 more) | not provided | |
Click to view in NCBI Gene