Variant (rsID / SNP)
rs1062087
rs1062087 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBC1D4. Location: chromosome 13, position 75,884,216. Clinical significance in the table: Benign.
Reference-table entries
TBC1D4Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:75884216
- Cytoband
- 13q22.2
- HGVS
- NM_014832.5(TBC1D4):c.2455G>A (p.Val819Ile)
- Allele change
- Missense_V819I
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.