Variant (rsID / SNP)
rs2228348
rs2228348 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HSPG2. Location: chromosome 1, position 22,201,462. Clinical significance in the table: Benign.
Reference-table entries
HSPG2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:22201462
- Cytoband
- 1p36.12
- HGVS
- NM_005529.7(HSPG2):c.3336C>T (p.Pro1112=)
- Allele change
- Synonymous_P1112P
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.