Variant (rsID / SNP)

rs139500146

rs139500146 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSPG2. Location: chromosome 1, position 22,165,963. Clinical significance in the table: Benign.

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Reference-table entries

HSPG2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:22165963
Cytoband: 1p36.12
HGVS: NM_005529.7(HSPG2):c.9790A>G (p.Ile3264Val)
Allele change: Missense_I3264V

Associated conditions / phenotypes

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

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.