Variant #0000174081 (NC_000017.10:g.41835887T>A, SOST(NM_025237.2):c.220+3A>T)

Individual ID 00107724
Chromosome 17
Allele Maternal (confirmed)
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.41835887T>A
DNA change (hg38) g.43758519T>A
Published as -
ISCN -
DB-ID SOST_000002 See all 6 reported entries
Variant remarks linkage
Reference PubMed: Balemans 2001
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+3A>T r.(spl?) p.(del?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108195 DNA SEQ - - SOST 2 Johan den Dunnen