Variant (rsID / SNP)

rs143543800

rs143543800 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSPG2. Location: chromosome 1, position 22,161,394. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

HSPG2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:22161394
Cytoband: 1p36.12
HGVS: NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met)
Allele change: Missense_V3500M

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.