Chromosome: | chr18 |
Position (hg19): | 21118573 |
Reference: | CCT |
Observed: | C |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | frameshift_variant |
cDNA change: | c.2972_2973delAG |
AA change: | p.Gln991fs |
Exon/intron: | 20 |
dbSNP id: | rs756815030 |
1000g AF: | |
ExAC AF: | 0.00002471 |
ESP6500ea AF: | 0.0001 |
ESP6500aa AF: | 0 |
Classification: | 4 (likely pathogenic) |
# patients: | 1 |
# controls: | 0 |
Sources: | Human_Gene_Mutation_Database Greer_et_al._(1999)_Am_J_Hum_Genet_65:1252-1260 |