Chromosome: | chr18 |
Position (hg19): | 21136400 |
Reference: | A |
Observed: | G |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.1133T>C |
AA change: | p.Val378Ala |
Exon/intron: | 8 |
dbSNP id: | rs120074134 |
1000g AF: | |
ExAC AF: | 0.00004118 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0002 |
Classification: | 4 (likely pathogenic) |
# patients: | 1 |
# controls: | 0 |
Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database Dvorakova_et_al._(2006)_J_Inherit_Metab_Dis_29:591 |