Chromosome: | chr18 |
Position (hg19): | 21119821 |
Reference: | CATT |
Observed: | C |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | conservative_inframe_deletion |
cDNA change: | c.2746_2748delAAT |
AA change: | p.Asn916del |
Exon/intron: | 18 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.00004942 |
ESP6500ea AF: | 0.0001 |
ESP6500aa AF: | 0 |
Classification: | 3 (unknown significance) |
# patients: | 1 |
# controls: | 0 |
Sources: | Mac�as-Vidal_J_Clin_Genet_2011:_80:_39_�_49. http://www.ncbi.nlm.nih.gov/pubmed/20718790 |