Chromosome: | chr18 |
Position (hg19): | 21124365 |
Reference: | C |
Observed: | T |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | synonymous_variant |
cDNA change: | c.2073G>A |
AA change: | p.Pro691Pro |
Exon/intron: | 13 |
dbSNP id: | rs113013085 |
1000g AF: | |
ExAC AF: | 0.00542 |
ESP6500ea AF: | 0.0064 |
ESP6500aa AF: | 0.0016 |
Classification: | 1 (benign) |
# patients: | 0 |
# controls: | 62 |
Sources: | Exome_Variant_Server http://evs.gs.washington.edu/EVS/ |