Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs111624565

PLEKHG5

rs111624565 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLEKHG5. Location: chromosome 1, position 6,533,112. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

PLEKHG5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:6533112
Cytoband
1p36.31
HGVS
NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=)
Allele change
Synonymous_D306D

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.