Variant (rsID / SNP)
rs62620232
rs62620232 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGSH. Location: chromosome 17, position 78,184,601. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
SGSHBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:78184601
- Cytoband
- 17q25.3
- HGVS
- NM_000199.5(SGSH):c.1159G>A (p.Val387Met)
- Allele change
- Missense_V387M
Associated conditions / phenotypes
Mucopolysaccharidosis, MPS-III-A
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.