Chromosome: | chr18 |
Position (hg19): | 21118573 |
Reference: | C |
Observed: | G |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.2974G>C |
AA change: | p.Gly992Arg |
Exon/intron: | 20 |
dbSNP id: | rs80358254 |
1000g AF: | |
ExAC AF: | 0.00003295 |
ESP6500ea AF: | 0.0001 |
ESP6500aa AF: | 0 |
Classification: | 4 (likely pathogenic) |
# patients: | 2 |
# controls: | 0 |
Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database Millat_et_al._(2001)_Am_J_Hum_Genet_69:1013-1021 |