Chromosome: | chr18 |
Position (hg19): | 21115443 |
Reference: | T |
Observed: | C |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.3467A>G |
AA change: | p.Asn1156Ser |
Exon/intron: | 22 |
dbSNP id: | rs28942105 |
1000g AF: | |
ExAC AF: | 0.00002471 |
ESP6500ea AF: | 0.0002 |
ESP6500aa AF: | 0.0059 |
Classification: | 5 (pathogenic) |
# patients: | 7 |
# controls: | 0 |
Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database Fernandez-Valero_et_al._(2005)_Clin_Genet_68:245-254 |