Variant (rsID / SNP)

rs369869993

rs369869993 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FADD. Location: chromosome 11, position 70,052,265. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FADDUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:70052265
Cytoband: 11q13.3
HGVS: NM_003824.4(FADD):c.313T>C (p.Cys105Arg)
Allele change: Missense_C105R

Associated conditions / phenotypes

FADD-related immunodeficiency

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.