Chromosome: | chr18 |
Position (hg19): | 21124335 |
Reference: | G |
Observed: | A |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | synonymous_variant |
cDNA change: | c.2103C>T |
AA change: | p.Asn701Asn |
Exon/intron: | 13 |
dbSNP id: | rs7227375 |
1000g AF: | |
ExAC AF: | 0.003608 |
ESP6500ea AF: | 0.0002 |
ESP6500aa AF: | 0.0374 |
Classification: | 1 (benign) |
# patients: | 1 |
# controls: | 167 |
Sources: | Exome_Variant_Server__Niemann-Pick_Type_C_Disease_Gene_Variation_Database NCBI_Entrez_SNP_database_(dbSNP_BUILD_127) |