Home > Gene Browser > NFIA

NFIA

Synonyms
BRMUTD, CTF, NF-I/A, NF1-A, NFI-A, NFI-L
External resources
Summary
This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene.

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
4
Likely pathogenic
0
VUS
4,443
Likely benign
2,967
Benign
687

Patient Phenotypes

Proportions of phenotypes among 4 patients carrying pathogenic or likely pathogenic variants on NFIA gene are displayed below. The following symptoms were found in patients with a variant in NFIA. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
50%
Abnormality of the cardiovascular system
50%
Abnormality of the integument
50%
Abnormality of the musculoskeletal system
50%
Abnormality of the nervous system
50%
Growth abnormality
50%
Abnormality of limbs
25%
Abnormality of metabolism homeostasis
25%
Abnormality of prenatal development or birth
25%
Abnormality of the digestive system
25%
Abnormality of the eye
25%
Abnormality of the immune system
25%
Abnormality of the respiratory system
25%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
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%

Have a question or need assistance? Ask here.

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