Variant (rsID / SNP)

rs199422327

rs199422327 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADA. Location: chromosome 20, position 43,249,723. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ADALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:43249723
Cytoband: 20q13.12
HGVS: NM_000022.4(ADA):c.911T>G (p.Leu304Arg)
Allele change: Missense_L280R

Associated conditions / phenotypes

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase 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.