Home > Gene Browser > NADK

NADK

Synonyms
dJ283E3.1
External resources
Summary
NADK catalyzes the transfer of a phosphate group from ATP to NAD to generate NADP, which in its reduced form acts as an electron donor for biosynthetic reactions (Lerner et al., 2001

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
63
Likely pathogenic
3
VUS
3,278
Likely benign
226
Benign
0

Patient Phenotypes

Proportions of phenotypes among 65 patients carrying pathogenic or likely pathogenic variants on NADK gene are displayed below. The following symptoms were found in patients with a variant in NADK. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32.3%
Abnormality of the musculoskeletal system
30.8%
Abnormality of the cardiovascular system
23.1%
Abnormality of head or neck
18.5%
Growth abnormality
15.4%
Abnormality of the ear
13.8%
Abnormality of the eye
12.3%
Abnormality of metabolism homeostasis
9.2%
Abnormality of the digestive system
7.7%
Abnormality of blood and blood forming tissues
6.2%
Abnormality of the genitourinary system
6.2%
Abnormality of the integument
6.2%
Abnormality of limbs
4.6%
Abnormality of prenatal development or birth
3.1%
Abnormality of the endocrine system
3.1%
Abnormality of the immune system
3.1%
Neoplasm
3.1%
Constitutional symptom
1.5%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.