Chromosome: | chr18 |
Position (hg19): | 21119787 |
Reference: | T |
Observed: | G |
Gene: | NPC1 |
Transcript: | NM_000271.4 |
Type: | missense_variant |
cDNA change: | c.2783A>C |
AA change: | p.Gln928Pro |
Exon/intron: | 18 |
dbSNP id: | rs28940897 |
1000g AF: | |
ExAC AF: | 0.489 |
ESP6500ea AF: | 0.4698 |
ESP6500aa AF: | 0.3879 |
Classification: | 3 (unknown significance) |
# patients: | 1 |
# controls: | 0 |
Sources: | Niemann-Pick_Type_C_Disease_Gene_Variation_Database NCBI_Entrez_SNP_database_(dbSNP_BUILD_127) |