Variant (rsID / SNP)
rs6089016
rs6089016 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPB41L1. Location: chromosome 20, position 34,785,935. Clinical significance in the table: Benign.
Reference-table entries
EPB41L1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:34785935
- Cytoband
- 20q11.23
- HGVS
- NM_012156.2(EPB41L1):c.1640C>G (p.Pro547Arg)
- Allele change
- Missense_P473R
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.