Variant (rsID / SNP)
rs4576240
rs4576240 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KIAA0319. Location: chromosome 6, position 24,596,478. The table records no clinical significance for this variant.
Reference-table entries
KIAA0319Not classified
- Variant type
- missense_variant
- Chromosome / position
- 6:24596478
- HGVS
- NM_001168375.2,c.424A>C,p.Thr142Pro
- Allele change
- Missense_T142P
Associated conditions / phenotypes
Missense_T142P|Missense_T133P|Missense_T136P|Missense_T142P|Silent|Missense_T97P|Missense_T142P
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.