Gene Symbol:
NTHL1
HGNC:8028
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
16p13.3
Filters:

Definitive classifications

familial adenomatous polyposis 3
Submitted as: OMIM:616415
AR
09/28/2023
Evaluated
01/02/2024
Submitted
NTHL1-deficiency tumor predisposition syndrome
AR
12/30/2022
Evaluated
04/21/2024
Submitted

Strong classifications

familial adenomatous polyposis 3
Submitted as: OMIM:616415
AR
03/04/2020
Evaluated
03/31/2021
Submitted
familial adenomatous polyposis 3
Submitted as: OMIM:616415
AR
01/26/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

familial adenomatous polyposis 3
Submitted as: Orphanet:454840
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

AR
02/05/2024
Evaluated
01/17/2025
Submitted
AR
02/05/2024
Evaluated
01/17/2025
Submitted

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