Variant (rsID / SNP)

rs372221490

rs372221490 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANO5. Location: chromosome 11, position 22,257,823. Clinical significance in the table: Pathogenic.

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Reference-table entries

ANO5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:22257823
Cytoband: 11p14.3
HGVS: NM_213599.3(ANO5):c.762+1G>A
Allele change: Silent

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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