Variant (rsID / SNP)

rs2254358

rs2254358 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSPG2. Location: chromosome 1, position 22,216,574. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HSPG2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:22216574
Cytoband: 1p36.12
HGVS: NM_005529.7(HSPG2):c.474G>T (p.Gly158=)
Allele change: Synonymous_G158G

Associated conditions / phenotypes

Schwartz-Jampel syndrome|Lethal Kniest-like syndrome

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.