Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs377549896

ANO5

rs377549896 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANO5. Location: chromosome 11, position 22,301,257. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ANO5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:22301257
Cytoband
11p14.3
HGVS
NM_213599.3(ANO5):c.2688C>G (p.Ala896=)
Allele change
Synonymous_A895A

Associated conditions / phenotypes

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