Variant (rsID / SNP)

rs72552294

rs72552294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPD1L. Location: chromosome 3, position 32,200,566. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GPD1LUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:32200566
Cytoband: 3p22.3
HGVS: NM_015141.4(GPD1L):c.817C>T (p.Arg273Cys)
Allele change: Missense_R273C

Associated conditions / phenotypes

Brugada syndrome 2|Cardiovascular phenotype|Brugada 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.