Variant (rsID / SNP)

rs141818070

rs141818070 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LARGE1. Location: chromosome 22, position 34,046,345. 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: 22:34046345
Cytoband: 22q12.3
HGVS: NM_133642.5(LARGE1):c.408+8G>A
Allele change: Silent

Associated conditions / phenotypes

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.