Variant (rsID / SNP)

rs86487

rs86487 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LARGE1. Location: chromosome 22, position 34,022,284. Clinical significance in the table: Benign.

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Reference-table entries

LARGE1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:34022284
Cytoband: 22q12.3
HGVS: NM_133642.5(LARGE1):c.435C>T (p.Ala145=)
Allele change: Synonymous_A145A

Associated conditions / phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6|Muscular dystrophy-dystroglycanopathy type B6

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.