Chromosome: | chr18 |
Position (hg19): | 21134743 |
Reference: | G |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.1532C>T |
AA change: | p.Thr511Met |
Exon/intron: | 9 |
dbSNP id: | rs13381670 |
1000g AF: | |
ExAC AF: | 0.0008236 |
ESP6500ea AF: | 0.0001 |
ESP6500aa AF: | 0.0093 |
Classification: | 2 (likely benign) |
# patients: | 1 |
# controls: | 42 |
Sources: | Exome_Variant_Server__Niemann-Pick_Type_C_Disease_Gene_Variation_Database NCBI_Entrez_SNP_database_(dbSNP_BUILD_127) |