RS138358708 WDR81

Health Risk Chr 17:1731097 snv stop gained
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What This Variant Does
"CLNSIG=5
Associated Conditions
Cerebellar ataxia
intellectual disability
and dysequilibrium syndrome 2
Inborn genetic diseases
Cerebellar ataxia
intellectual disability
and dysequilibrium syndrome 2
Inborn genetic diseases
ClinVar Assertions (2)
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter)
· 6 submitters
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter)
· 7 submitters
Population Frequencies
gnomAD ALL
100%
Other Variants in WDR81
rs587776906 rs730882206 rs770279237 rs151330612 rs369748157 rs1057524638 rs1064796183 rs138211651 rs137952560 rs1555562577
Ask Dr. Hemsworth about this variant