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Variant (rsID / SNP)

rs781027702

ANO5

rs781027702 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANO5. Location: chromosome 11, position 22,301,090. 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
11:22301090
Cytoband
11p14.3
HGVS
NM_213599.3(ANO5):c.2521C>G (p.His841Asp)
Allele change
Missense_H840D

Associated conditions / phenotypes

ANO5-Related Disorders|Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L|Limb-girdle muscular dystrophy

Public references

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