Variant #0000174092 (NC_000017.10:g.41835889C>A, SOST(NM_025237.2):c.220+1G>T)

Individual ID 00107730
Chromosome 17
Allele Maternal (inferred)
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.41835889C>A
DNA change (hg38) g.43758521C>A
Published as IVS1+1G>C
ISCN -
DB-ID SOST_000008 See all 5 reported entries
Variant remarks not in 100 control chromosomes
Reference PubMed: Balemans 2005
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 +/. 1i c.220+1G>T r.spl? p.del?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108201 DNA SEQ - - SOST 2 Johan den Dunnen