Variant (rsID / SNP)

rs201754085

rs201754085 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RFXAP. Location: chromosome 13, position 37,393,924. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RFXAPBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:37393924
Cytoband: 13q13.3
HGVS: NM_000538.4(RFXAP):c.430G>A (p.Glu144Lys)
Allele change: Missense_E144K

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.