Chromosome: | chr18 |
Position (hg19): | 21136402 |
Reference: | TG |
Observed: | T |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | frameshift_variant |
cDNA change: | c.1130delC |
AA change: | p.Pro377fs |
Exon/intron: | 8 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.00004118 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0002 |
Classification: | 4 (likely pathogenic) |
# patients: | 1 |
# controls: | 0 |
Sources: | Human_Gene_Mutation_Database Millat_et_al_(2005)_Mol_Genet_Metab_86_220 |