Variant #0000174085 (NC_000017.10:g.41744731_41796448del, SOST(NM_025237.2):c.*36262_*87979del)

Individual ID 00107726
Chromosome 17
Allele Both (homozygous)
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.41744731_41796448del
DNA change (hg38) g.43667363_43719080del
Published as -
ISCN -
DB-ID SOST_000007 See all 6 reported entries
Variant remarks 51.7Kb deletion; shared haplotype
Reference PubMed: Balemans 2002
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 Johan den Dunnen
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     
SOST NM_025237.2 +/. 2_ c.*36262_*87979del r.(0) p.(0)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108197 DNA Southern;PCR;SEQ - - SOST 1 Johan den Dunnen