rs367543258 has not been reported to ClinVar. Refer to dbSNP record rs367543258 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_000009.12: 34,647,955
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GRCh37.p13: NC_000009.11: 34,647,952
Genome Data Viewer
Source: KnownItemSensor
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene