Variant #0000658148 (NC_000017.10:g.41835926C>T, SOST(NM_025237.2):c.184G>A)

Chromosome 17
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.41835926C>T
DNA change (hg38) g.43758558C>T
Published as SOST(NM_025237.2):c.184G>A (p.(Gly62Arg))
ISCN -
DB-ID SOST_000011
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SOST NM_025237.2 +?/. - c.184G>A r.(?) p.(Gly62Arg)