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Variant (rsID / SNP)

rs41341748

MSR1

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.