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Gene Mutations
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| Records Return:
(3)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| SNRPN | 182279 | 176270 | 15q12 | DEL MATERNAL EXON ALPHA | | PRADER-WILLI SYNDROME | 4 |
| SNRPN | 182279 | 176270 | 15q12 | DEL PATERNAL EXON ALPHA | | PRADER-WILLI SYNDROME | 3 |
| SNRPN | 182279 | 176270 | 15q12 | mosaic c.73C>T(p.Arg25Ter) | | PRADER-WILLI SYNDROME | 1 |
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