Variant (rsID / SNP)

rs179363890

rs179363890 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYBA. Location: chromosome 16, position 88,713,557. Clinical significance in the table: Pathogenic.

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Reference-table entries

CYBAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:88713557
Cytoband: 16q24.2
HGVS: NM_000101.4(CYBA):c.155T>C (p.Leu52Pro)
Allele change: Missense_L52P

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.