RS112530241 PLEKHG5

Health Risk Chr 1:6476015 snv missense variant
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Associated Conditions
Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy
distal hereditary motor
autosomal recessive 4
Inborn genetic diseases
Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy
distal hereditary motor
autosomal recessive 4
Inborn genetic diseases
Population Frequencies
gnomAD ALL
100%
1kG AFR
99.6%
1kG ALL
0.1%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in PLEKHG5
rs63750315 rs397515454 rs397515455 rs373184968 rs150807400 rs199794578 rs202191898 rs140202670 rs141032388 rs886042289
Ask Dr. Hemsworth about this variant