Variant (rsID / SNP)

rs2229322

rs2229322 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CIITA. Location: chromosome 16, position 11,016,045. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CIITABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:11016045
Cytoband: 16p13.13
HGVS: NM_000246.4(CIITA):c.3171C>T (p.Cys1057=)
Allele change: Synonymous_C1057C

Associated conditions / phenotypes

MHC class II 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.