Variant #0000039741 (NC_000003.11:g.148868411C>T, HPS3(NM_032383.3):c.1189C>T)

Individual ID 00019484
Chromosome 3
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.148868411C>T
DNA change (hg38) g.149150624C>T
Published as C1329T
ISCN -
DB-ID HPS3_000006
Variant remarks -
Reference PubMed: Huizing 2001, OMIM:var0006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner William (Bill) Oetting
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HPS3 NM_032383.3 +/. 6 c.1189C>T r.(?) p.(Arg397Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019469 DNA;RNA RT-PCR;SEQ - - HPS3 2 William (Bill) Oetting