Variant (rsID / SNP)
rs3796544
rs3796544 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AASDH. Location: chromosome 4, position 57,215,677. The table records no clinical significance for this variant.
Reference-table entries
AASDHNot classified
- Variant type
- missense_variant
- Chromosome / position
- 4:57215677
- HGVS
- NM_001323890.2,c.2240C>T,p.Ala747Val
- Allele change
- Missense_A594V
Associated conditions / phenotypes
Missense_A262V|Missense_A747V|Missense_A594V|Missense_A747V|Missense_A747V
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.