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FDXACB1

Synonyms
hCG_2033039
External resources
Summary
This gene encodes a protein which contains a ferredoxin-fold anticodon-binding domain which is contained in a subset of phenylalanyl tRNA synthetases. Alternative splicing results in multiple transcript variants.

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
13
Likely pathogenic
0
VUS
3,125
Likely benign
244
Benign
0

Patient Phenotypes

Proportions of phenotypes among 13 patients carrying pathogenic or likely pathogenic variants on FDXACB1 gene are displayed below. The following symptoms were found in patients with a variant in FDXACB1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
53.8%
Abnormality of limbs
46.2%
Abnormality of head or neck
30.8%
Abnormality of the ear
30.8%
Abnormality of the eye
30.8%
Abnormality of the nervous system
23.1%
Growth abnormality
23.1%
Abnormality of the genitourinary system
15.4%
Abnormality of the integument
15.4%
Abnormality of the cardiovascular system
7.7%
Neoplasm
7.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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