Variant (rsID / SNP)

rs121965008

rs121965008 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYB5R3. Location: chromosome 22, position 43,024,175. 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: 22:43024175
Cytoband: 22q13.2
HGVS: NM_000398.7(CYB5R3):c.446T>C (p.Leu149Pro)
Allele change: Missense_L126P

Associated conditions / phenotypes

Methemoglobinemia, type I

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.