| Chromosome: | chr18 |
| Position (hg19): | 21115700 |
| Reference: | TCTCA |
| Observed: | T |
| Gene: | NPC1 |
| Transcript: | NM_000271.4 |
| Type: | intron_variant |
| cDNA change: | c.3246-40_3246-37delTGAG |
| AA change: | |
| Exon/intron: | 21 |
| dbSNP id: | rs780645716 |
| 1000g AF: | |
| ExAC AF: | 0.000008238 |
| ESP6500ea AF: | 0.0001 |
| ESP6500aa AF: | 0.035 |
| Classification: | n/a |
| # patients: | 0 |
| # controls: | 0 |
| Sources: |
