Individual #00380459

ID_report WHP54
Reference PubMed: Sun 2018
Remarks -
Gender F
Consanguinity -
Country China
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Phenotype details     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000274311 - Cataract 12 Familial, autosomal dominant 23y - - - - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000381672 DNA SEQ-NG-I blood - BFSP2 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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
3 Unknown +?/. - likely pathogenic g.133119040G>A g.133400196G>A BFSP2(NM_003571.2):c.113G>A(p.S38N) - BFSP2_000013 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 154 - 0 - LOVD BFSP2 - - - - - - NM_003571.2:c.113G>A - r.(?) p.(Ser38Asn) - - - - - - - - - - - - - - - - - - - -
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