Table 2 Mutation position and characteristics: the positions of polymorphisms and mutations are defined according to contig NC_000015.10 for MKN3 gene and NC_000019.10 for GPR54 gene
From: MKRN3 and KISS1R mutations in precocious and early puberty
N | Gene | Position | Allele | Location | dbSNP ID | N patient | Note |
|---|---|---|---|---|---|---|---|
1 | GPR54 | chr19:920642 | T > A T > C | Exon 5 | rs 350,132 | 15 | Benign polymorphism |
2 | GPR54 | chr19:920421 | C > T | Exon 5 | rs764046537 | 1 | Missense variant |
3 | MKRN3 | chr15:23566445 | C > A C > T | – | rs2239669 | 6 | Synonymous variant |
4 | MKRN3 | chr15:23566883 | C > T | – | rs140467331 | 1 | Synonymous variant |
5 | MKRN3 | chr15:23566885 | C > G | – | rs760981395 | 1 | Missense variant |