Chromosome: | chr18 |
Position (hg19): | 21118572 |
Reference: | C |
Observed: | G |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.2975G>C |
AA change: | p.Gly992Ala |
Exon/intron: | 20 |
dbSNP id: | rs757534240 |
1000g AF: | |
ExAC AF: | 0.00001647 |
ESP6500ea AF: | 0.0008 |
ESP6500aa AF: | 0.0002 |
Classification: | 2 (likely benign) |
# patients: | 1 |
# controls: | 0 |
Sources: | Human_Gene_Mutation_Database Sevin_(2007)_Brain_130_120 |