Chromosome: | chr18 |
Position (hg19): | 21140367 |
Reference: | G |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.709C>T |
AA change: | p.Pro237Ser |
Exon/intron: | 6 |
dbSNP id: | rs80358251 |
1000g AF: | |
ExAC AF: | 0.01 |
ESP6500ea AF: | 0.0159 |
ESP6500aa AF: | 0.003 |
Classification: | 1 (benign) |
# patients: | 4 |
# controls: | 150 |
Sources: | Exome_Variant_Server__Niemann-Pick_Type_C_Disease_Gene_Variation_Database Vanier_and_Millat_(2003)_Clin_Genet_64:269-281 |