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ENTPD6

Synonyms
CD39L2, IL-6SAG, IL6ST2, NTPDase-6, dJ738P15.3
External resources
Summary
ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions which are characteristic of NTPases. Alternative splicing results in multiple transcript variants encoding different isoforms.

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
15
Likely pathogenic
0
VUS
5,262
Likely benign
177
Benign
0

Patient phenotypes

Proportions of phenotypes among 15 patients carring pathogenic or likely pathogenic variants on ENTPD6 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormality of head or neck
26.7%
Growth abnormality
26.7%
Abnormality of the genitourinary system
20%
Abnormality of the integument
20%
Abnormality of the musculoskeletal system
20%
Abnormality of the ear
13.3%
Abnormality of the eye
13.3%
Abnormal cellular phenotype
6.7%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of limbs
6.7%
Abnormality of the cardiovascular system
6.7%
Abnormality of the digestive system
6.7%
Abnormality of the immune system
6.7%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
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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