Variant (rsID / SNP)

rs3007419

rs3007419 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLEKHG5. Location: chromosome 1, position 6,528,302. Clinical significance in the table: Benign.

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Reference-table entries

PLEKHG5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:6528302
Cytoband: 1p36.31
HGVS: NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg)
Allele change: Missense_Q865R

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

dbSNP
ClinVar
Ensembl
gnomAD

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