Variant (rsID / SNP)
rs142732823
rs142732823 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCM4. Location: chromosome 8, position 48,878,875. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MCM4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:48878875
- Cytoband
- 8q11.21
- HGVS
- NM_182746.3(MCM4):c.961C>T (p.Arg321Cys)
- Allele change
- Missense_R321C
Associated conditions / phenotypes
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.