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Variant (rsID / SNP)

rs184541137

PLEKHG5

rs184541137 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLEKHG5. Location: chromosome 1, position 6,528,439. 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
1:6528439
Cytoband
1p36.31
HGVS
NM_020631.6(PLEKHG5):c.2457C>T (p.Tyr819=)
Allele change
Synonymous_Y819Y

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.