Variant (rsID / SNP)
rs1039808
rs1039808 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FAT4. Location: chromosome 4, position 126,239,986. Clinical significance in the table: Benign.
Reference-table entries
FAT4Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:126239986
- Cytoband
- 4q28.1
- HGVS
- NM_001291303.3(FAT4):c.2420C>T (p.Ala807Val)
- Allele change
- Missense_A807V
Associated conditions / phenotypes
Van Maldergem syndrome 2|Hennekam lymphangiectasia-lymphedema syndrome 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.