Variant (rsID / SNP)
rs138544311
rs138544311 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DPAGT1, HMBS. Location: chromosome 11, position 118,968,185. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
DPAGT1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:118968185
- Cytoband
- 11q23.3
- HGVS
- NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val)
- Allele change
- Missense_F332V
Associated conditions / phenotypes
Acute intermittent porphyria|Congenital myasthenic syndrome 13|DPAGT1-congenital disorder of glycosylation|DPAGT1-congenital disorder of glycosylation
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.