Chromosome: | chr18 |
Position (hg19): | 21116835 |
Reference: | T |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.3047A>T |
AA change: | p.His1016Leu |
Exon/intron: | 21 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.000008236 |
ESP6500ea AF: | 0.0001 |
ESP6500aa AF: | 0 |
Classification: | 4 (likely pathogenic) |
# patients: | 2 |
# controls: | 0 |
Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database Runz__H._unpublished_(personal_communication) |