Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs201725369

ANO5

rs201725369 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANO5. Location: chromosome 11, position 22,239,825. 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
11:22239825
Cytoband
11p14.3
HGVS
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
Allele change
Missense_R57W

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2L|Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|Miyoshi muscular dystrophy 3|Abnormality of the musculature|Autosomal recessive 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.