Chromosome: | chr18 |
Position (hg19): | 21121057 |
Reference: | A |
Observed: | G |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.2489T>C |
AA change: | p.Leu830Pro |
Exon/intron: | 16 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.00002471 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0002 |
Classification: | 3 (unknown significance) |
# patients: | 1 |
# controls: | 0 |
Sources: | Human_Gene_Mutation_Database H�ron_(2012)_Orphanet_J_Rare_Dis_7 |