Variant (rsID / SNP)

rs193922704

rs193922704 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AICDA. Location: chromosome 12, position 8,757,864. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

AICDALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:8757864
Cytoband: 12p13.31
HGVS: NM_020661.4(AICDA):c.374G>A (p.Gly125Glu)
Allele change: Missense_G125E

Associated conditions / phenotypes

Hyper-IgM syndrome type 2

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.