Variant #0000174101 (NC_000017.10:g.41833198T>G, SOST(NM_025237.2):c.221-67A>C)

Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.41833198T>G
DNA change (hg38) g.43755830T>G
Published as A+2692G
ISCN -
DB-ID SOST_000003 See all 4 reported entries
Variant remarks CHO cell expression cloning splice vector, no effect
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SOST NM_025237.2 -/. 1i c.221-67A>C r.= p.=