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Variant (rsID / SNP)

rs72861528

PLEKHG5

rs72861528 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLEKHG5. Location: chromosome 1, position 6,532,648. 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
1:6532648
Cytoband
1p36.31
HGVS
NM_020631.6(PLEKHG5):c.1019C>T (p.Ala340Val)
Allele change
Missense_A340V

Associated conditions / phenotypes

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.