Chromosome: | chr18 |
Position (hg19): | 21114443 |
Reference: | GCGCT |
Observed: | G |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | frameshift_variant |
cDNA change: | c.3554_3557delAGCG |
AA change: | p.Glu1185fs |
Exon/intron: | 23 |
dbSNP id: | |
1000g AF: | |
ExAC AF: | 0.00004942 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0005 |
Classification: | 4 (likely pathogenic) |
# patients: | 1 |
# controls: | 0 |
Sources: | Human_Gene_Mutation_Database Park_et_al._(2003)_Hum_Mutat_22:313-325 |