Variant (rsID / SNP)
rs1130409
rs1130409 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APEX1. Location: chromosome 14, position 20,925,154. The table records no clinical significance for this variant.
Reference-table entries
- Variant type
- missense_variant
- Chromosome / position
- 14:20925154
- HGVS
- NM_001244249.2,c.444T>G,p.Asp148Glu
- Allele change
- Missense_D148E
Associated conditions / phenotypes
Prostate Cancer|Renal Cell Carcinoma, Nonpapillary|Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus|Hearing Loss, Noise-Induced|Lung Cancer|Breast Cancer|Ovarian Cancer|Posterior Uveitis|Hypertension, Essential|Choroiditis|Uveitis|Lung Cancer Susceptibility 1|Toxoplasmosis|Neuroblastoma|Ocular Toxoplasmosis|Diffuse Large B-Cell Lymphoma|Squamous Cell Carcinoma|Cerebral Cavernous Malformations
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.