Variant #0000039711 (NC_000003.11:g.148844518_148848417del, HPS3(NM_032383.3):c.-2993_217+690del)

Individual ID 00019480
Chromosome 3
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.148844518_148848417del
DNA change (hg38) g.149126731_149130630del
Published as del ex1
ISCN -
DB-ID HPS3_000001 See all 7 reported entries
Variant remarks deletion 3904 bp; unknown variant 2nd chromosome
Reference PubMed: Huizing 2001, OMIM:var0001
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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 +/+ 1_1i c.-2993_217+690del r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019465 DNA SEQ - - HPS3 1 William (Bill) Oetting