Chromosome: | chr18 |
Position (hg19): | 21124308 |
Reference: | CT |
Observed: | C |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | frameshift_variant&splice_region_variant |
cDNA change: | c.2129delA |
AA change: | p.Gln710fs |
Exon/intron: | 13 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.00001647 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0002 |
Classification: | 4 (likely pathogenic) |
# patients: | 1 |
# controls: | 0 |
Sources: | Human_Gene_Mutation_Database Ribeiro_et_al._(2001)_Hum_Genet_109:24-32 |