Variant (rsID / SNP)

rs121965018

rs121965018 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYB5R3. Location: chromosome 22, position 43,019,809. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CYB5R3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 22:43019809
Cytoband: 22q13.2
HGVS: NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly)
Allele change: Missense_D217G

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.