| Chromosome: | chr18 |
| Position (hg19): | 21124922 |
| Reference: | A |
| Observed: | C |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | splice_donor_variant&intron_variant |
| cDNA change: | c.1947+2T>G |
| AA change: | |
| Exon/intron: | 12 |
| dbSNP id: | rs764472245 |
| 1000g AF: | |
| ExAC AF: | 0.00002471 |
| ESP6500ea AF: | 0.0079 |
| ESP6500aa AF: | 0.0011 |
| Classification: | 3 (unknown significance) |
| # patients: | 1 |
| # controls: | 0 |
| Sources: | Human_Gene_Mutation_Database Park_et_al._(2003)_Hum_Mutat_22:313-325 |
