rs749140168 has not been reported to ClinVar. Refer to dbSNP record rs749140168 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, T
- Variation type: single nucleotide variation
- Organism: Homo sapiens
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GRCh38.p14: NC_000017.11: 42,541,184
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GRCh37.p13: NC_000017.10: 40,693,202
Genome Data Viewer
Source: KnownItemSensor
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-III-B +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-III-B +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene