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Variant (rsID / SNP)

rs148560273

PLEKHG5

rs148560273 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLEKHG5. Location: chromosome 1, position 6,528,315. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PLEKHG5Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
1:6528315
Cytoband
1p36.31
HGVS
NM_020631.6(PLEKHG5):c.2581C>T (p.Arg861Cys)
Allele change
Missense_R861C

Associated conditions / phenotypes

Charcot-Marie-Tooth disease recessive intermediate C|Autosomal recessive lower motor neuron disease with childhood onset|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.