Variant (rsID / SNP)

rs778768583

rs778768583 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAPN3. Location: chromosome 15, position 42,703,156. Clinical significance in the table: Pathogenic.

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Reference-table entries

CAPN3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:42703156
Cytoband: 15q15.1
HGVS: NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)
Allele change: Missense_D780H

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2A

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.