Gene Symbol:
STUB1
HGNC:11427
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
16p13.3
Filters:

Strong classifications

spinocerebellar ataxia 48
Submitted as: OMIM:618093
AD
03/10/2022
Evaluated
08/19/2023
Submitted
autosomal recessive spinocerebellar ataxia 16
Submitted as: OMIM:615768
AR
08/02/2018
Evaluated
09/28/2021
Submitted
spinocerebellar ataxia 48
Submitted as: OMIM:618093
AD
03/31/2023
Evaluated
11/30/2023
Submitted
autosomal recessive spinocerebellar ataxia 16
Submitted as: OMIM:615768
AR
04/30/2021
Evaluated
11/30/2023
Submitted

Supportive classifications

autosomal recessive spinocerebellar ataxia 16
Submitted as: Orphanet:412057
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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