Variant (rsID / SNP)
rs199673455
rs199673455 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GPD1. Location: chromosome 12, position 50,501,423. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
GPD1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:50501423
- Cytoband
- 12q13.12
- HGVS
- NM_005276.4(GPD1):c.686G>C (p.Arg229Pro)
- Allele change
- Missense_R206Q
Associated conditions / phenotypes
Transient infantile hypertriglyceridemia and hepatosteatosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.