Variant (rsID / SNP)
rs117494970
rs117494970 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLEKHG5, TNFRSF25. Location: chromosome 1, position 6,527,596. Clinical significance in the table: Benign.
Reference-table entries
PLEKHG5Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:6527596
- Cytoband
- 1p36.31
- HGVS
- NM_020631.6(PLEKHG5):c.*27T>C
- Allele change
- Silent
Associated conditions / phenotypes
Autosomal recessive lower motor neuron disease with childhood onset
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.