Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs112122950

GPD1L

rs112122950 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPD1L. Location: chromosome 3, position 32,188,128. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

GPD1LConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:32188128
Cytoband
3p22.3
HGVS
NM_015141.4(GPD1L):c.520G>A (p.Glu174Lys)
Allele change
Missense_E174K

Associated conditions / phenotypes

Sudden cardiac death|Brugada syndrome

Public references

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