From: TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia
Varianta | rs numberb | Location in LHX1 | Genotype of patientsd | Genotype of controlsd |
---|---|---|---|---|
Predicted change | N=112 | N= 180 | ||
g.35295505G>C | - | exon 1 | GG: 111 (99.1%) | GG: 180 (100%) |
p.Cys4Ser | GC: 1 (0.9%) | GC: 0 (0%) | ||
CC: 0 (0%) | CC: 0 (0%) | |||
g.35300142C>A | - | exon 5 | CC: 109 (97.3%) | CC: 180 (100%) |
p.Pro312His | CA: 3 (2.7%) | CA: 0 (0%) | ||
AA: 0 (0%) | AA: 0 (0%) | |||
g.35300202C>G | TMP_ESP_17_35300202c | exon 5 | CC: 111 (99.1%) | CC: 180 (100%) |
p.Arg332Pro | CG: 1 (0.9%) | CG: 0 (0%) | ||
GG: 0 (0%) | GG: 0 (0%) |