Variant (rsID / SNP)
rs118204037
rs118204037 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FECH. Location: chromosome 18, position 55,226,380. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FECHConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:55226380
- Cytoband
- 18q21.31
- HGVS
- NM_000140.5(FECH):c.801G>A (p.Met267Ile)
- Allele change
- Missense_M273I
Associated conditions / phenotypes
Protoporphyria, erythropoietic, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.