Variant (rsID / SNP)
rs4905087
rs4905087 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRIMA1. Location: chromosome 14, position 94,245,649. Clinical significance in the table: Benign.
Reference-table entries
PRIMA1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:94245649
- Cytoband
- 14q32.12
- HGVS
- NM_178013.4(PRIMA1):c.102T>C (p.His34=)
- Allele change
- Synonymous_H34H
Associated conditions / phenotypes
Sleep-related hypermotor epilepsy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.