Chromosome: | chr18 |
Position (hg19): | 21119291 |
Reference: | A |
Observed: | G |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | intron_variant |
cDNA change: | c.2911+28T>C |
AA change: | |
Exon/intron: | 19 |
dbSNP id: | rs6507720 |
1000g AF: | |
ExAC AF: | 0.517 |
ESP6500ea AF: | 0.4719 |
ESP6500aa AF: | 0.6975 |
Classification: | 1 (benign) |
# patients: | 1 |
# controls: | 7131 |
Sources: | Exome_Variant_Server__Niemann-Pick_Type_C_Disease_Gene_Variation_Database Morris_et_al._(1999)_Biochem_Biophys_Res_Commun_261:493-498 |