Variant (rsID / SNP)

rs74847855

rs74847855 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MALT1. Location: chromosome 18, position 56,367,823. Clinical significance in the table: Benign.

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Reference-table entries

MALT1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 18:56367823
Cytoband: 18q21.32
HGVS: NM_006785.4(MALT1):c.649A>G (p.Arg217Gly)
Allele change: Missense_R217G

Associated conditions / phenotypes

Combined immunodeficiency due to MALT1 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.