Variant #0000174103 (NC_000017.10:g.41835890C>A, SOST(NM_025237.2):c.220+1G>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.41835890C>A
DNA change (hg38) -
Published as 220G>T
ISCN -
DB-ID SOST_000008 See all 5 reported entries
Variant remarks CHO cell expression cloning splice vector, effect on splicing
Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message.
Reference PubMed: Brunkow 2001
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
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.220_221insTins220+2_220+214 p.Asp74fs*