Variant (rsID / SNP)
rs111400494
rs111400494 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLEKHG5. Location: chromosome 1, position 6,536,052. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PLEKHG5Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:6536052
- Cytoband
- 1p36.31
- HGVS
- NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys)
- Allele change
- Missense_R30C
Associated conditions / phenotypes
Autosomal recessive lower motor neuron disease with childhood onset|Charcot-Marie-Tooth disease recessive intermediate C|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.