Variant (rsID / SNP)

rs150146721

rs150146721 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FECH. Location: chromosome 18, position 55,221,568. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

FECHPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:55221568
Cytoband: 18q21.31
HGVS: NM_000140.5(FECH):c.1001C>T (p.Pro334Leu)
Allele change: Missense_P340L

Associated conditions / phenotypes

Protoporphyria, erythropoietic, 1

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.