Chromosome: | chr18 |
Position (hg19): | 21131638 |
Reference: | G |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.1607C>T |
AA change: | p.Thr536Met |
Exon/intron: | 10 |
dbSNP id: | rs781523948 |
1000g AF: | |
ExAC AF: | 0.00004118 |
ESP6500ea AF: | 0.0003 |
ESP6500aa AF: | 0 |
Classification: | 4 (likely pathogenic) |
# patients: | 1 |
# controls: | 0 |
Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database Mattsson_Niklas__personal_communication_(Oct_30_2012) |