Variant (rsID / SNP)
rs61910685
rs61910685 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANO5. Location: chromosome 11, position 22,296,266. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
ANO5Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:22296266
- Cytoband
- 11p14.3
- HGVS
- NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu)
- Allele change
- Missense_S795L
Associated conditions / phenotypes
Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|Gnathodiaphyseal dysplasia|ANO5-Related Muscle Diseases|Autosomal recessive limb-girdle muscular dystrophy type 2L|Miyoshi muscular dystrophy 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.