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Variant (rsID / SNP)

rs1046166

LARGE1

rs1046166 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LARGE1. Location: chromosome 22, position 33,673,125. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LARGE1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
22:33673125
Cytoband
22q12.3
HGVS
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His)
Allele change
Missense_R665H

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.