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. 2021 Sep 24;24(2):186–190. doi: 10.4103/aja202160

Table 1.

Homozygous variant identified in an infertility patient

Patient Gene cDNA change Protein change Variant type Status dbSNP ID SIFT PolyPhen-2
P78 MBOAT1 c.151C>T p.R51C Missense Homozygous rs184491612 Deleterious PD

P78: patient 78; MBOAT1: membrane-bound O-acyltransferase domain-containing 1; Polyphen-2: polymorphism phenotyping v2; SIFT: sorting intolerant from tolerant; PD: probably damaging; cDNA: complementary DNA; dbSNP: database of single nucleotide polymorphism