Variant (rsID / SNP)
rs643788
rs643788 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DPAGT1, HMBS. Location: chromosome 11, position 118,967,758. Clinical significance in the table: Benign.
Reference-table entries
DPAGT1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:118967758
- Cytoband
- 11q23.3
- HGVS
- NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val)
- Allele change
- Missense_I393V
Associated conditions / phenotypes
Acute intermittent porphyria|Congenital disorder of glycosylation|DPAGT1-congenital disorder of glycosylation|Congenital myasthenic syndrome 13|DPAGT1-congenital disorder of glycosylation|Congenital myasthenic syndrome 13
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.