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Variant (rsID / SNP)

rs138460117

HSPG2

rs138460117 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSPG2. Location: chromosome 1, position 22,191,473. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HSPG2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:22191473
Cytoband
1p36.12
HGVS
NM_005529.7(HSPG2):c.4489T>A (p.Phe1497Ile)
Allele change
Missense_F1497I

Associated conditions / phenotypes

Schwartz-Jampel syndrome|Lethal Kniest-like syndrome

Public references

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