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Variant (rsID / SNP)

rs140202670

PLEKHG5

rs140202670 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLEKHG5. Location: chromosome 1, position 6,532,673. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PLEKHG5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:6532673
Cytoband
1p36.31
HGVS
NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp)
Allele change
Missense_R332W

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|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.