rs189840848

This is a stop gained variant in the ENTPD5 gene.

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ClinVar annotation

Pathogenic
2 submitters2 publications

Familial steroid-resistant nephrotic syndrome with sensorineural deafness

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About ENTPD5

The protein encoded by this gene is similar to E-type nucleotidases (NTPases)/ecto-ATPase/apyrases. NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD5 contains 4 apyrase-conserved regions which is characteristic of NTPases. [provided by RefSeq, Jan 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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