Variant (rsID / SNP)

rs193240312

rs193240312 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RFXAP. Location: chromosome 13, position 37,393,904. Clinical significance in the table: Benign.

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Reference-table entries

RFXAPBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:37393904
Cytoband: 13q13.3
HGVS: NM_000538.4(RFXAP):c.410T>C (p.Met137Thr)
Allele change: Missense_M137T

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.