Chromosome: | chr18 |
Position (hg19): | 21118568 |
Reference: | TC |
Observed: | T |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | frameshift_variant |
cDNA change: | c.2978delG |
AA change: | p.Gly993fs |
Exon/intron: | 20 |
dbSNP id: | rs775915490 |
1000g AF: | |
ExAC AF: | 0.000008236 |
ESP6500ea AF: | 0.0008 |
ESP6500aa AF: | 0.0002 |
Classification: | 4 (likely pathogenic) |
# patients: | 1 |
# controls: | 0 |
Sources: | Human_Gene_Mutation_Database Fernandez-Valero_et_al._(2005)_Clin_Genet_68:245-254 |