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Variant (rsID / SNP)

rs141089495

LARGE1

rs141089495 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LARGE1. Location: chromosome 22, position 33,673,157. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LARGE1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:33673157
Cytoband
22q12.3
HGVS
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=)
Allele change
Synonymous_E654E

Associated conditions / phenotypes

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

Public references

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