| Chromosome: | chr18 |
| Position (hg19): | 21119774 |
| Reference: | C |
| Observed: | G |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | splice_donor_variant&intron_variant |
| cDNA change: | c.2795+1G>C |
| AA change: | |
| Exon/intron: | 18 |
| dbSNP id: | |
| 1000g AF: | |
| ExAC AF: | 0.003492 |
| ESP6500ea AF: | 0.0053 |
| ESP6500aa AF: | 0.0005 |
| Classification: | 3 (unknown significance) |
| # patients: | 2 |
| # controls: | 0 |
| Sources: | Human_Gene_Mutation_Database__Andrea_Dardis Zampieri_(2011)_JIMD_Rep_2_59 |
