Variant (rsID / SNP)
rs2073601
rs2073601 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SIM2. Location: chromosome 21, position 38,117,308. The table records no clinical significance for this variant.
Reference-table entries
SIM2Not classified
- Variant type
- missense_variant
- Chromosome / position
- 21:38117308
- HGVS
- NM_005069.6,c.1447C>A,p.Leu483Met
- Allele change
- Missense_L483M
Associated conditions / phenotypes
Down Syndrome|Chromosomal Triplication|Scoliosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.