Variant (rsID / SNP)

rs139904931

rs139904931 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLEKHG5. Location: chromosome 1, position 6,531,575. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PLEKHG5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:6531575
Cytoband: 1p36.31
HGVS: NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=)
Allele change: Synonymous_P418P

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

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.