Variant (rsID / SNP)
rs3732378
rs3732378 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CX3CR1. Location: chromosome 3, position 39,307,162. Clinical significance in the table: no interpretation for the single variant.
Reference-table entries
- Clinical significance (as recorded)
- no interpretation for the single variant
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:39307162
- Cytoband
- 3p22.2
- HGVS
- NM_001337.4(CX3CR1):c.839C>T (p.Thr280Met)
- Allele change
- Missense_T280M
Associated conditions / phenotypes
Developmental Dysplasia of the Hip 1|Macular Degeneration, Age-Related, 1|End Stage Renal Disease|Oligohydramnios|Eye Disease|Vascular Disease|Atrial Standstill 1|Dilated Cardiomyopathy|Alzheimer Disease|Atherosclerosis Susceptibility|Lateral Sclerosis|Human Immunodeficiency Virus Type 1|Amyotrophic Lateral Sclerosis 1|Macular Degeneration, Age-Related, 12|Developmental Dysplasia of the Hip 2|Cerebrovascular Disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.