Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs147774793

CAPN3

rs147774793 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAPN3. Location: chromosome 15, position 42,702,836. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CAPN3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:42702836
Cytoband
15q15.1
HGVS
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=)
Allele change
Synonymous_Y745Y

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2A

Public references

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