Chromosome: | chr18 |
Position (hg19): | 21119790 |
Reference: | G |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.2780C>T |
AA change: | p.Ala927Val |
Exon/intron: | 18 |
dbSNP id: | rs753768576 |
1000g AF: | |
ExAC AF: | 0.00002471 |
ESP6500ea AF: | 0.4698 |
ESP6500aa AF: | 0.3879 |
Classification: | 4 (likely pathogenic) |
# patients: | 2 |
# controls: | 0 |
Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database Meiner_et_al._(2001)_Genet_Med_3:343-348 |