Variant (rsID / SNP)

rs121965006

rs121965006 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYB5R3. Location: chromosome 22, position 43,024,239. Clinical significance in the table: Pathogenic.

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Reference-table entries

CYB5R3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 22:43024239
Cytoband: 22q13.2
HGVS: NM_000398.7(CYB5R3):c.382T>C (p.Ser128Pro)
Allele change: Missense_S105P

Associated conditions / phenotypes

Methemoglobinemia type 2

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.