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Variant (rsID / SNP)

rs201678262

ANO5

rs201678262 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANO5. Location: chromosome 11, position 22,242,738. 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
11:22242738
Cytoband
11p14.3
HGVS
NM_213599.3(ANO5):c.276A>G (p.Lys92=)
Allele change
Synonymous_K91K

Associated conditions / phenotypes

Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L

Public references

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