Variant (rsID / SNP)

rs72997200

rs72997200 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RFXANK. Location: chromosome 19, position 19,307,797. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RFXANKConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 19:19307797
Cytoband: 19p13.11
HGVS: NM_003721.4(RFXANK):c.213C>T (p.Thr71=)
Allele change: Synonymous_T71T

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.