Variant #0000174102 (NC_000017.10:g.41835887T>A, SOST(NM_025237.2):c.220+3A>T)

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
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 CHO cell expression cloning splice vector, effect on splicing
Reference PubMed: Brunkow 2001, OMIM:var00002
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SOST NM_025237.2 +/. 1i c.220+3A>T r.220_221insGTTins220+4_220+214 p.Asp74fs*