Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs143437991

HSPG2

rs143437991 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSPG2. Location: chromosome 1, position 22,176,542. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

HSPG2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:22176542
Cytoband
1p36.12
HGVS
NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp)
Allele change
Missense_R2480W

Associated conditions / phenotypes

Lethal Kniest-like syndrome|Schwartz-Jampel syndrome

Public references

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