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NOM1

Synonyms
C7orf3, PPP1R113, SGD1
External resources
Summary
Proteins that contain MIF4G (middle of eIF4G (MIM 600495)) and/or MA3 domains, such as NOM1, function in protein translation. These domains include binding sites for members of the EIF4A family of ATP-dependent DEAD box RNA helicases (see EIF4A1; MIM 602641) (Simmons et al., 2005

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
24
Likely pathogenic
0
VUS
4,538
Likely benign
148
Benign
0

Patient Phenotypes

Proportions of phenotypes among 24 patients carrying pathogenic or likely pathogenic variants on NOM1 gene are displayed below. The following symptoms were found in patients with a variant in NOM1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
33.3%
Abnormality of the integument
20.8%
Abnormality of the musculoskeletal system
20.8%
Abnormality of the nervous system
20.8%
Abnormality of head or neck
16.7%
Abnormality of the cardiovascular system
16.7%
Abnormality of limbs
12.5%
Abnormality of metabolism homeostasis
8.3%
Abnormality of the ear
8.3%
Growth abnormality
8.3%
Abnormality of blood and blood forming tissues
4.2%
Abnormality of prenatal development or birth
4.2%
Abnormality of the digestive system
4.2%
Abnormality of the endocrine system
4.2%
Abnormality of the genitourinary system
4.2%
Abnormality of the respiratory system
4.2%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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