Variant (rsID / SNP)

rs78091557

rs78091557 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCM4. Location: chromosome 8, position 48,882,447. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MCM4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:48882447
Cytoband: 8q11.21
HGVS: NM_182746.3(MCM4):c.1264C>T (p.Arg422Trp)
Allele change: Missense_R422W

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.