Variant (rsID / SNP)

rs201241191

rs201241191 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FTL. Location: chromosome 19, position 49,469,093. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FTLBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:49469093
Cytoband: 19q13.33
HGVS: NM_000146.4(FTL):c.169G>A (p.Glu57Lys)
Allele change: Missense_E57K

Associated conditions / phenotypes

sporadic abdominal aortic aneurysm|Neuroferritinopathy|Hereditary hyperferritinemia with congenital cataracts

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.