Individual #00327511

ID_report Fam8
Reference PubMed: Wang 2016
Remarks 2-generation family, 3 affected, (2F, M) unaffected heterozygous parents
Gender F;M
Consanguinity yes
Country Turkey
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 3
Diseases ?
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-01-22 17:16:18 +01:00 (CET)
Date last edited N/A


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000245792 axial spondylometaphyseal dysplasia SMDAX see paper; ... Familial, autosomal recessive - - - - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000328726 DNA SEQ;SEQ-NG - WES C21orf2 1 LOVD



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA 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     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
21 Both (homozygous) +?/. - likely pathogenic (recessive) g.45753071C>G g.44333188C>G - - C21orf2_000019 - PubMed: Wang 2016 - rs140451304 Germline yes - - - - LOVD C21orf2 - - - - 4 NM_004928.2:c.218G>C - r.(?) p.(Arg73Pro) - - - - - - - - - - - - - -
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