Variant (rsID / SNP)

rs28936685

rs28936685 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAV3. Location: chromosome 3, position 8,787,357. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CAV3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:8787357
Cytoband: 3p25.3
HGVS: NM_033337.3(CAV3):c.260T>C (p.Leu87Pro)
Allele change: Missense_L87P

Associated conditions / phenotypes

Rippling muscle disease 2|Long QT syndrome|SUDDEN INFANT DEATH SYNDROME

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.