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MRM2

Synonyms
FJH1, FTSJ2, HEL97, MTDPS17, RRMJ2
External resources
Summary
The protein encoded by this gene is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and it may be involved in the processing and modification of rRNA. This gene has been suggested to be involved in cell cycle control and DNA repair.

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
6
Likely pathogenic
0
VUS
1,029
Likely benign
689
Benign
277

Patient phenotypes

Proportions of phenotypes among 5 patients carring pathogenic or likely pathogenic variants on MRM2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
40%
Abnormality of the nervous system
40%
Abnormality of head or neck
20%
Abnormality of the cardiovascular system
20%
Abnormality of the eye
20%
Abnormality of the musculoskeletal system
20%
Growth abnormality
20%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
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 genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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