Chromosome: | chr18 |
Position (hg19): | 21134832 |
Reference: | AATGGTG |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | disruptive_inframe_deletion |
cDNA change: | c.1437_1442delCACCAT |
AA change: | p.Thr480_Ile481del |
Exon/intron: | 9 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.000008236 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0002 |
Classification: | 3 (unknown significance) |
# patients: | 1 |
# controls: | 0 |
Sources: | Human_Gene_Mutation_Database Spiegel_et_al_(2009)_Am_J_Med_Genet_A_149A__446 |