Individual #00296520

ID_report -
Reference PubMed: Kazzi 2018
Remarks -
Gender M
Consanguinity -
Country -
Population -
Age at death >27y (later than 27 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases IPF
Owner name Joanne van der Vis
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema


Phenotypes

fibrosis, pulmonary, idiopathic (IPF) (IPF)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000223926 11 mo: RDS; adult: pulmonary fibrosis/interstitial pneumonitis - - Unknown - - - - - Joanne van der Vis



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000297630 DNA SEQ-NG-I - - SFTPC 1 Joanne van der Vis



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     
8 Unknown +?/+? - likely pathogenic g.22021021A>C g.22163508A>C - - SFTPC_000034 - PubMed: Kazzi 2018 - - De novo - - - 0 - Joanne van der Vis SFTPC - - - - - 4 NM_003018.3:c.397A>C - r.(?) p.(Ser133Arg) - - - - - - - - - - - - - - - - - - - -
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