rs397509250 has not been reported to ClinVar. Refer to dbSNP record rs397509250 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, G
- Variation type: single nucleotide variation
- Organism: Homo sapiens
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GRCh38.p14: NC_000017.11: 43,057,048
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GRCh37.p13: NC_000017.10: 41,209,065
Genome Data Viewer
Source: KnownItemSensor
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Breast-ovarian cancer, familial, susceptibility to, 1 | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Familial cancer of breast +1 more | |
Click to view in NCBI Gene