Chromosome: | chr18 |
Position (hg19): | 21123478 |
Reference: | C |
Observed: | T |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.2186G>A |
AA change: | p.Gly729Glu |
Exon/intron: | 14 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.00002471 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0002 |
Classification: | 4 (likely pathogenic) |
# patients: | 1 |
# controls: | 0 |
Sources: | Takamura_(2013)_Mol_Genet_Metab_110:401 na |