Variant (rsID / SNP)

rs142458572

rs142458572 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSPG2. Location: chromosome 1, position 22,173,967. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HSPG2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:22173967
Cytoband: 1p36.12
HGVS: NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp)
Allele change: Missense_R2682W

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.