Chromosome: | chr18 |
Position (hg19): | 21148797 |
Reference: | ACT |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | frameshift_variant |
cDNA change: | c.451_452delAG |
AA change: | p.Ser151fs |
Exon/intron: | 4 |
dbSNP id: | rs749012588 |
1000g AF: | |
ExAC AF: | 0.000008237 |
ESP6500ea AF: | 0.0004 |
ESP6500aa AF: | 0.0002 |
Classification: | 4 (likely pathogenic) |
# patients: | 1 |
# controls: | 0 |
Sources: | Human_Gene_Mutation_Database Sun_et_al._(2001)_Am_J_Hum_Genet_68:1361-1372 |