Variant (rsID / SNP)

rs116840773

rs116840773 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAV3. Location: chromosome 3, position 8,787,234. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CAV3Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:8787234
Cytoband: 3p25.3
HGVS: NM_033337.3(CAV3):c.137C>T (p.Ala46Val)
Allele change: Missense_A46V

Associated conditions / phenotypes

Rippling muscle disease 2

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.