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Variant (rsID / SNP)

rs139001173

HSPG2

rs139001173 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSPG2. Location: chromosome 1, position 22,178,111. 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
1:22178111
Cytoband
1p36.12
HGVS
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=)
Allele change
Synonymous_C2362C

Associated conditions / phenotypes

Schwartz-Jampel syndrome|Lethal Kniest-like syndrome|Connective tissue disorder

Public references

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