Variant (rsID / SNP)

rs536560

rs536560 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FECH. Location: chromosome 18, position 55,221,648. Clinical significance in the table: Benign.

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Reference-table entries

FECHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 18:55221648
Cytoband: 18q21.31
HGVS: NM_000140.5(FECH):c.921A>G (p.Pro307=)
Allele change: Synonymous_P313P

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.