Variant (rsID / SNP)
rs144859183
rs144859183 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLEKHG5. Location: chromosome 1, position 6,537,599. 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
- 1:6537599
- Cytoband
- 1p36.31
- HGVS
- NM_020631.6(PLEKHG5):c.33T>C (p.Leu11=)
- Allele change
- Synonymous_L11L
Associated conditions / phenotypes
Autosomal recessive lower motor neuron disease with childhood onset|Autosomal recessive lower motor neuron disease with childhood onset|Charcot-Marie-Tooth disease recessive intermediate C
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.