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Variant (rsID / SNP)

rs147121216

ANO5

rs147121216 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANO5. Location: chromosome 11, position 22,257,780. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ANO5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:22257780
Cytoband
11p14.3
HGVS
NM_213599.3(ANO5):c.720G>T (p.Leu240=)
Allele change
Synonymous_L239L

Associated conditions / phenotypes

Limb-Girdle Muscular Dystrophy, Recessive|Miyoshi myopathy|Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L|ANO5-Related Muscle Diseases

Public references

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