Chromosome: | chr18 |
Position (hg19): | 21140411 |
Reference: | T |
Observed: | C |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.665A>G |
AA change: | p.Asn222Ser |
Exon/intron: | 6 |
dbSNP id: | rs55680026 |
1000g AF: | |
ExAC AF: | 0.003525 |
ESP6500ea AF: | 0.006 |
ESP6500aa AF: | 0.0016 |
Classification: | 1 (benign) |
# patients: | 1 |
# controls: | 59 |
Sources: | Exome_Variant_Server__Niemann-Pick_Type_C_Disease_Gene_Variation_Database Park_et_al._(2003)_Hum_Mutat_22:313-325 |