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Variant (rsID / SNP)

rs5452

FTLGYS1

rs5452 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FTL, GYS1. Location: chromosome 19, position 49,472,746. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FTLConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:49472746
Cytoband
19q13.33
HGVS
NM_002103.5(GYS1):c.2013C>T (p.Asp671=)
Allele change
Silent

Associated conditions / phenotypes

Hereditary hyperferritinemia with congenital cataracts|Neuroferritinopathy|Glycogen storage disease due to muscle and heart glycogen synthase deficiency

Public references

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