Variant (rsID / SNP)

rs587777678

rs587777678 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAMA1. Location: chromosome 18, position 6,956,767. Clinical significance in the table: Pathogenic.

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Reference-table entries

LAMA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 18:6956767
Cytoband: 18p11.31
HGVS: NM_005559.4(LAMA1):c.7965-15_7965-3del

Associated conditions / phenotypes

Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.