Variant (rsID / SNP)

rs146842638

rs146842638 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCM4. Location: chromosome 8, position 48,877,183. Clinical significance in the table: Likely benign.

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Reference-table entries

MCM4Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:48877183
Cytoband: 8q11.21
HGVS: NM_182746.3(MCM4):c.743G>A (p.Arg248His)
Allele change: Missense_R248H

Associated conditions / phenotypes

Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.