Variant (rsID / SNP)

rs186265242

rs186265242 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYD88. Location: chromosome 3, position 38,181,914. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MYD88Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:38181914
Cytoband: 3p22.2
HGVS: NM_002468.5(MYD88):c.499T>C (p.Tyr167His)
Allele change: Silent

Associated conditions / phenotypes

Pyogenic bacterial infections due to MyD88 deficiency

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.