Variant (rsID / SNP)
rs1785934
rs1785934 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELP2. Location: chromosome 18, position 33,718,326. The table records no clinical significance for this variant.
Reference-table entries
ELP2Not classified
- Variant type
- missense_variant
- Chromosome / position
- 18:33718326
- HGVS
- NM_001242875.3,c.382A>C,p.Thr128Pro
- Allele change
- Missense_T128P
Associated conditions / phenotypes
Missense_T128P|Silent|Silent|Missense_T128P|Missense_T128P|Missense_T128P|Missense_T128P|Silent
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.