Variant (rsID / SNP)
rs326217
rs326217 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MADD. Location: chromosome 11, position 47,303,275. The table records no clinical significance for this variant.
Reference-table entries
MADDNot classified
- Variant type
- synonymous_variant
- Chromosome / position
- 11:47303275
- HGVS
- NM_001376571.1,c.1440T>C,p.Asn480Asn
- Allele change
- Synonymous_N480N
Associated conditions / phenotypes
Multiple Acyl-Coa Dehydrogenase Deficiency|Heart Disease|Coronary Heart Disease 1|Synonymous_N480N|Synonymous_N480N
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.