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NTHL1

Synonyms
FAP3, NTH1, OCTS3, hNTH1
External resources
Summary
The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues and has apurinic/apyrimidinic lyase activity.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
12
Likely pathogenic
0
VUS
1,865
Likely benign
85
Benign
0

Patient Phenotypes

Proportions of phenotypes among 12 patients carrying pathogenic or likely pathogenic variants on NTHL1 gene are displayed below. The following symptoms were found in patients with a variant in NTHL1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
41.7%
Abnormality of the musculoskeletal system
41.7%
Abnormality of head or neck
25%
Abnormality of limbs
25%
Abnormality of the nervous system
25%
Abnormality of blood and blood forming tissues
16.7%
Abnormality of the cardiovascular system
16.7%
Abnormality of the digestive system
16.7%
Abnormality of the integument
16.7%
Growth abnormality
16.7%
Abnormal cellular phenotype
8.3%
Abnormality of metabolism homeostasis
8.3%
Abnormality of the immune system
8.3%
Abnormality of the respiratory system
8.3%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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