Variant (rsID / SNP)

rs1800457

rs1800457 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYB5R3. Location: chromosome 22, position 43,024,271. Clinical significance in the table: Benign.

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Reference-table entries

CYB5R3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:43024271
Cytoband: 22q13.2
HGVS: NM_000398.7(CYB5R3):c.350C>G (p.Thr117Ser)
Allele change: Missense_T94S

Associated conditions / phenotypes

NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM

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.