Variant #0000174069 (NC_000017.10:g.41836040G>A, SOST(NM_025237.2):c.70C>T)

Individual ID 00107718
Chromosome 17
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.41836040G>A
DNA change (hg38) g.43758672G>A
Published as -
ISCN -
DB-ID SOST_000001 See all 2 reported entries
Variant remarks linkage; not in 636 control chromosomes
Reference PubMed: Brunkow 2001, OMIM:var00001
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 -/. 1 c.70C>T r.(?) p.Gln24*



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108189 DNA SEQ - - SOST 1 Johan den Dunnen