Variant #0000174094 (NC_000017.10:g.41835889C>A, SOST(NM_025237.2):c.220+1G>T)
Individual ID |
00107731 |
Chromosome |
17 |
Allele |
Maternal (inferred) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.41835889C>A |
DNA change (hg38) |
g.43758521C>A |
Published as |
IVS1+1G>C |
ISCN |
- |
DB-ID |
SOST_000008 See all 5 reported entries |
Variant remarks |
not in 100 control chromosomes |
Reference |
PubMed: Balemans 2005 |
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 |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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