Chromosome: | chr18 |
Position (hg19): | 21119777 |
Reference: | G |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | splice_region_variant&synonymous_variant |
cDNA change: | c.2793C>T |
AA change: | p.Asn931Asn |
Exon/intron: | 18 |
dbSNP id: | rs1140458 |
1000g AF: | |
ExAC AF: | 0.489 |
ESP6500ea AF: | 0.4698 |
ESP6500aa AF: | 0.3879 |
Classification: | 1 (benign) |
# patients: | 30 |
# controls: | 5749 |
Sources: | Exome_Variant_Server__Niemann-Pick_Type_C_Disease_Gene_Variation_Database Bauer_et_al._(2002)_Hum_Mutat_19:30-38 |