Variant (rsID / SNP)
rs587777680
rs587777680 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA1. Location: chromosome 18, position 7,016,662. Clinical significance in the table: Pathogenic.
Reference-table entries
LAMA1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 18:7016662
- Cytoband
- 18p11.31
- HGVS
- NM_005559.4(LAMA1):c.2816_2817del (p.Tyr939fs)
Associated conditions / phenotypes
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.