Variant (rsID / SNP)
rs41341748
rs41341748 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSR1. Location: chromosome 8, position 16,012,594. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MSR1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:16012594
- Cytoband
- 8p22
- HGVS
- NM_138715.3(MSR1):c.877C>T (p.Arg293Ter)
- Allele change
- Nonsense_R293X
Associated conditions / phenotypes
Malignant tumor of prostate|Hereditary cancer-predisposing syndrome|X-linked Alport syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
