Variant (rsID / SNP)

rs121965009

rs121965009 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYB5R3. Location: chromosome 22, position 43,026,905. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CYB5R3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 22:43026905
Cytoband: 22q13.2
HGVS: NM_000398.7(CYB5R3):c.316G>A (p.Val106Met)
Allele change: Missense_V83M

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.