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Variant (rsID / SNP)

rs141813907

FECH

rs141813907 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FECH. Location: chromosome 18, position 55,238,725. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FECHConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:55238725
Cytoband
18q21.31
HGVS
NM_000140.5(FECH):c.362A>G (p.Glu121Gly)
Allele change
Missense_E127G

Associated conditions / phenotypes

Protoporphyria, erythropoietic, 1|See cases

Public references

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