Gene Symbol:
NR3C2
HGNC:7979
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
4q31.23
Filters:

Definitive classifications

autosomal dominant pseudohypoaldosteronism type 1
AD
08/05/2019
Evaluated
10/15/2020
Submitted
Illumina
Evidence: The NR3C2 gene is located on chromosome 4 at 4q31.23 and encodes nuclear receptor subfamily 3 group... Read more
autosomal dominant pseudohypoaldosteronism type 1
Submitted as: OMIM:177735
AD
03/29/2016
Evaluated
12/24/2020
Submitted
autosomal dominant pseudohypoaldosteronism type 1
AD
07/15/2021
Evaluated
04/21/2024
Submitted

Strong classifications

autosomal dominant pseudohypoaldosteronism type 1
Submitted as: OMIM:177735
AD
01/11/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

autosomal dominant pseudohypoaldosteronism type 1
Submitted as: Orphanet:171871
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

pseudohyperaldosteronism type 2
Submitted as: OMIM:605115
Unknown
08/29/2019
Evaluated
11/30/2023
Submitted
pseudohyperaldosteronism type 2
AD
07/15/2021
Evaluated
04/21/2024
Submitted

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