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| Infertility and Recurrent Pregnancy Loss v0.18 | AURKC | Zornitza Stark Marked gene: AURKC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.18 | AURKC | Zornitza Stark Gene: aurkc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.18 | AURKC | Zornitza Stark Classified gene: AURKC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.18 | AURKC | Zornitza Stark Gene: aurkc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.17 | AURKC |
Jasmine Chew gene: AURKC was added gene: AURKC was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: AURKC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AURKC were set to 17435757; 19147683; 21733974 Phenotypes for gene: AURKC were set to Spermatogenic failure 5, MIM #243060 Review for gene: AURKC was set to GREEN Added comment: i) PMID: 17435757- homozygous 1bp del (c.144delC; 603495.0001) in 10 infertile men (4 were unrelated French citizens of African descent) with a large-headed sperm phenotype, which resulted in premature termination of translation, yielding a truncated protein that lacks the kinase domain ii) PMID: 19147683 - homozygous c.144delC found in 31 patients and compound heterozygous for c.144delC and a missense variant (C229Y) in 30 patients with large-headed spermatozoa iii) PMID: 21733974- compound heterozygous for the c.144delC variant and a splice variant ((c.436-2A-G; predicted to cause skipping of exon 5) in 2 infertile brothers of Tunisian descent with macrozoospermia and a younger sister who had yet tried to achieve pregnancy Sources: Literature |
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