Variant (rsID / SNP)

rs3848519

rs3848519 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FECH. Location: chromosome 18, position 55,247,336. 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: 18:55247336
Cytoband: 18q21.31
HGVS: NM_000140.5(FECH):c.163G>T (p.Gly55Cys)
Allele change: Missense_G55C

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.