Chromosome: | chr18 |
Position (hg19): | 21115460 |
Reference: | G |
Observed: | T |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.3450C>A |
AA change: | p.Asn1150Lys |
Exon/intron: | 22 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.001079 |
ESP6500ea AF: | 0.0003 |
ESP6500aa AF: | 0.0136 |
Classification: | 4 (likely pathogenic) |
# patients: | 1 |
# controls: | 0 |
Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database Sun_et_al._(2001)_Am_J_Hum_Genet_68:1361-1372 |