Chromosome: | chr18 |
Position (hg19): | 21125046 |
Reference: | T |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.1825A>T |
AA change: | p.Ile609Phe |
Exon/intron: | 12 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.00005765 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0005 |
Classification: | 3 (unknown significance) |
# patients: | 1 |
# controls: | 0 |
Sources: | Human_Gene_Mutation_Database Fusco_(2012)_J_Child_Neurol._Epub |