Chromosome: | chr18 |
Position (hg19): | 21118527 |
Reference: | G |
Observed: | C |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.3020C>G |
AA change: | p.Pro1007Arg |
Exon/intron: | 20 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.000008236 |
ESP6500ea AF: | 0.0001 |
ESP6500aa AF: | 0 |
Classification: | 3 (unknown significance) |
# patients: | 1 |
# controls: | 0 |
Sources: | Human_Gene_Mutation_Database Di_Rocco_(2012)_Pediatr._Neurol_47_40 |