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SHPRH

Synonyms
bA545I5.2
External resources
Summary
SHPRH is a ubiquitously expressed protein that contains motifs characteristics of several DNA repair proteins, transcription factors, and helicases. SHPRH is a functional homolog of S. cerevisiae RAD5 (Unk et al., 2006

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
199
VUS
10,670
Likely benign
4,548
Benign
0

Patient Phenotypes

Proportions of phenotypes among 212 patients carrying pathogenic or likely pathogenic variants on SHPRH gene are displayed below. The following symptoms were found in patients with a variant in SHPRH. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.4%
Abnormality of head or neck
20.3%
Abnormality of the musculoskeletal system
19.8%
Abnormality of the ear
13.7%
Abnormality of the eye
12.7%
Growth abnormality
11.8%
Abnormality of blood and blood forming tissues
10.8%
Abnormality of the cardiovascular system
8%
Abnormality of the genitourinary system
6.6%
Abnormality of limbs
4.2%
Abnormality of the digestive system
4.2%
Abnormality of metabolism homeostasis
3.8%
Abnormality of the immune system
3.8%
Abnormality of the respiratory system
3.3%
Abnormality of the integument
2.8%
Abnormality of prenatal development or birth
2.4%
Abnormality of the endocrine system
1.4%
Constitutional symptom
0.5%
Neoplasm
0.5%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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