Chromosome: | chr18 |
Position (hg19): | 21119369 |
Reference: | G |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.2861C>T |
AA change: | p.Ser954Leu |
Exon/intron: | 19 |
dbSNP id: | rs543206298 |
1000g AF: | |
ExAC AF: | 0.00006589 |
ESP6500ea AF: | 0.0001 |
ESP6500aa AF: | 0 |
Classification: | 4 (likely pathogenic) |
# patients: | 4 |
# controls: | 0 |
Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database Bauer_et_al._(2002)_Hum_Mutat_19:30-38 |