Variant (rsID / SNP)

rs116760479

rs116760479 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IGLL1. Location: chromosome 22, position 23,922,281. Clinical significance in the table: Benign.

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Reference-table entries

IGLL1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:23922281
Cytoband: 22q11.23
HGVS: NM_020070.4(IGLL1):c.97G>A (p.Val33Met)
Allele change: Missense_V33M

Associated conditions / phenotypes

Agammaglobulinemia 2, autosomal recessive

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.