Chromosome: | chr18 |
Position (hg19): | 21121072 |
Reference: | T |
Observed: | C |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.2474A>G |
AA change: | p.Tyr825Cys |
Exon/intron: | 16 |
dbSNP id: | rs550562774 |
1000g AF: | |
ExAC AF: | 0.00002471 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0002 |
Classification: | 5 (pathogenic) |
# patients: | 2 |
# controls: | 0 |
Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database Bauer_et_al._(2002)_Hum_Mutat_19:30-38 |