RS138249161 POLR3B
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What This Variant Does
"rs138249161, also known as c.1568T>
Associated Conditions
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 7 with or without anosmia
Leukodystrophy
hypomyelinating
7
with or without oligodontia and/or hypogonadotropic hypogonadism
POLR-related leukodystrophy
Hypogonadotropic hypogonadism
See cases
Charcot-Marie-Tooth disease
demyelinating
IIA 1I
POLR3B-related disorder
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar Assertions (2)
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)
Population Frequencies
gnomAD ALL
0%
1kG AFR
100%
1kG ALL
100%
1kG AMR
100%
1kG EAS
100%
1kG EUR
0.1%
1kG SAS
100%
Other Variants in POLR3B