Variant (rsID / SNP)

rs78108426

rs78108426 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CIITA. Location: chromosome 16, position 11,001,421. Clinical significance in the table: Benign.

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Reference-table entries

CIITABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:11001421
Cytoband: 16p13.13
HGVS: NM_000246.4(CIITA):c.2072C>A (p.Ala691Asp)
Allele change: Missense_A691D

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.