rs34946266 has not been reported to ClinVar. Refer to dbSNP record rs34946266 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: T
- Variation alleles: A, C
- Variation type: single nucleotide variation
- Organism: Homo sapiens
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GRCh38.p14: NC_000012.12: 101,786,013
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GRCh37.p13: NC_000012.11: 102,179,791
Genome Data Viewer
Source: KnownItemSensor
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Mucolipidosis type II +1 more | |
| | | Single nucleotide variant (missense variant) | Mucolipidosis type II +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene