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Variant (rsID / SNP)

rs267606803

FECH

rs267606803 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FECH. Location: chromosome 18, position 55,217,992. Clinical significance in the table: no interpretation for the single variant.

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Reference-table entries

FECHOther
Clinical significance (as recorded)
no interpretation for the single variant
Variant type
single nucleotide variant
Chromosome / position
18:55217992
Cytoband
18q21.31
HGVS
NM_000140.5(FECH):c.1224T>A (p.Asn408Lys)
Allele change
Missense_N414K

Associated conditions / phenotypes

Protoporphyria, Erythropoietic, 1|Erythropoietic Protoporphyria, Autosomal Recessive

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.