The NTHL1 gene homepage

NOTE: the NTHL1 coding DNA reference sequence has been updated to the MANE select
NM_002528.7 transcript. As a consequence the N-terminal protein sequence has
been shortened by 8 amino acids (MCSPQESG).
General information
Gene symbol NTHL1
Gene name nth endonuclease III-like 1 (E. coli)
Chromosome 16
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_008412.1
Transcript reference NM_002528.7
Associated with diseases CRC, FAP, FAP3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 87
Unique public DNA variants reported 38
Individuals with public variants 27
Hidden variants 12
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
NOTE: the NTHL1 coding DNA reference sequence has been updated to the MANE select NM_002528.7 transcript. As a consequence the N-terminal protein sequence has been shortened by 8 amino acids (MCSPQESG).
Date created May 03, 2013
Date last updated November 01, 2025
Version NTHL1:251101

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/NTHL1
HGNC HGNC:8028
Entrez Gene 4913
PubMed articles NTHL1
OMIM - Gene 602656
OMIM - Diseases CRC (cancer, colorectal, susceptibility to (CRC))
FAP3 (adenomatous polyposis, familial, type 23 (FAP-3))
HGMD NTHL1
GeneCards NTHL1
NIH Genetic Testing Registry NTHL1
Orphanet NTHL1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00026024 16 transcript variant 1 (expired, new version available) (expired, new version available) NM_002528.7 NP_002519.2 87


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