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Variant (rsID / SNP)

rs12627793

LARGE1

rs12627793 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LARGE1. Location: chromosome 22, position 33,700,346. 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
22:33700346
Cytoband
22q12.3
HGVS
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=)
Allele change
Synonymous_I533I

Associated conditions / phenotypes

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

Public references

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