Full data view for gene SOST

Information The variants shown are described using the NM_025237.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.87dup r.(?) p.(Lys30Glnfs*3) Both (homozygous) - pathogenic (recessive) g.41836023dup g.43758655dup NM_025237.2:c.87dupC:p.(Lys30Glnfs*3) - SOST_000012 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 16DG0974 PubMed: Maddirevula 2018 family F yes - Arab - 0 - - 1 LOVD
+/. 1 c.87dup r.(?) p.(Lys30Glnfs*3) Both (homozygous) - pathogenic (recessive) g.41836023dup g.43758655dup 87_88insC - SOST_000012 - PubMed: Fayez 2015 - rs377648601 Germline - - - 0 - DNA SEQ White blood cells - SOST1 FamPatIV5 PubMed: Fayez 2015 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes (Egypt) Africa - 0 - - 2 Alaaeldin Fayez
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