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Variant (rsID / SNP)

rs141032388

PLEKHG5

rs141032388 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLEKHG5. Location: chromosome 1, position 6,534,643. 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
1:6534643
Cytoband
1p36.31
HGVS
NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met)
Allele change
Missense_V103M

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.