Chromosome: | chr18 |
Position (hg19): | 21118638 |
Reference: | G |
Observed: | C |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | splice_region_variant&intron_variant |
cDNA change: | c.2912-3C>G |
AA change: | |
Exon/intron: | 19 |
dbSNP id: | rs483352892 |
1000g AF: | |
ExAC AF: | 0.0001071 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0002 |
Classification: | 3 (unknown significance) |
# patients: | 1 |
# controls: | 0 |
Sources: | Lin_et_al__J_Lipid_Res._201455(2):338-4 http://www.ncbi.nlm.nih.gov/pubmed/24190732 |