Variant (rsID / SNP)
rs679899
rs679899 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,250,914. Clinical significance in the table: Benign/Likely_benign.
Reference-table entries
APOBBenign
- Clinical significance (as recorded)
- Benign/Likely_benign
- Variant type
- missense_variant
- Chromosome / position
- 2:21250914
- HGVS
- NM_000384.3,c.1853C>T,p.Ala618Val
- Allele change
- Missense_A618V
Associated conditions / phenotypes
X-Linked Chondrodysplasia Punctata 2|Myocardial Infarction|Stroke, Ischemic|Mend Syndrome|Chronic Kidney Disease|Kidney Disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
