Chromosome: | chr18 |
Position (hg19): | 21113459 |
Reference: | G |
Observed: | T |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.3614C>A |
AA change: | p.Thr1205Lys |
Exon/intron: | 24 |
dbSNP id: | rs758902805 |
1000g AF: | |
ExAC AF: | 0.000008237 |
ESP6500ea AF: | 0 |
ESP6500aa AF: | 0.0002 |
Classification: | 4 (likely pathogenic) |
# patients: | 1 |
# controls: | 0 |
Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database Park_et_al._(2003)_Hum_Mutat_22:313-325 |