Chromosome: | chr18 |
Position (hg19): | 21118635 |
Reference: | A |
Observed: | C |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant&splice_region_variant |
cDNA change: | c.2912T>G |
AA change: | p.Val971Gly |
Exon/intron: | 20 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.0001071 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0002 |
Classification: | 3 (unknown significance) |
# patients: | 1 |
# controls: | 0 |
Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database Bauer_et_al._(2002)_Hum_Mutat_19:30-38 |