Variant (rsID / SNP)

rs143964319

rs143964319 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RFXANK. Location: chromosome 19, position 19,310,037. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RFXANKUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:19310037
Cytoband: 19p13.11
HGVS: NM_003721.4(RFXANK):c.706C>T (p.Arg236Trp)
Allele change: Missense_R214W

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.