Variant (rsID / SNP)
rs201502372
rs201502372 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BLOC1S3, TRAPPC6A. Location: chromosome 19, position 45,683,032. Clinical significance in the table: Likely benign.
Reference-table entries
BLOC1S3Likely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:45683032
- Cytoband
- 19q13.32
- HGVS
- NM_212550.5(BLOC1S3):c.478G>T (p.Val160Leu)
- Allele change
- Missense_V160L
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.