Variant #0000730069 (NC_000017.10:g.41836023dup, SOST(NM_025237.2):c.87dup)

Individual ID 00331568
Chromosome 17
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.41836023dup
DNA change (hg38) g.43758655dup
Published as NM_025237.2:c.87dupC:p.(Lys30Glnfs*3)
ISCN -
DB-ID SOST_000012 See all 2 reported entries
Variant remarks -
Reference PubMed: Maddirevula 2018
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 LOVD
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 +/. - c.87dup r.(?) p.(Lys30Glnfs*3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000332787 DNA SEQ;SEQ-NG - WES SOST 1 LOVD