Chromosome: | chr18 |
Position (hg19): | 21131684 |
Reference: | C |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.1561G>T |
AA change: | p.Ala521Ser |
Exon/intron: | 10 |
dbSNP id: | rs138184115 |
1000g AF: | |
ExAC AF: | 0.0002059 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.002 |
Classification: | 2 (likely benign) |
# patients: | 1 |
# controls: | 9 |
Sources: | Exome_Variant_Server__Niemann-Pick_Type_C_Disease_Gene_Variation_Database Park_et_al._(2003)_Hum_Mutat_22:313-325 |