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Variant (rsID / SNP)

rs75160992

CYB5A

rs75160992 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYB5A. Location: chromosome 18, position 71,959,098. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CYB5AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:71959098
Cytoband
18q22.3
HGVS
NM_148923.4(CYB5A):c.13T>G (p.Ser5Ala)
Allele change
Missense_S5A

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.