Variant (rsID / SNP)

rs72552292

rs72552292 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPD1L. Location: chromosome 3, position 32,180,100. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GPD1LUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:32180100
Cytoband: 3p22.3
HGVS: NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys)
Allele change: Missense_E83K

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.