Individual #00019775

ID_report -
Reference PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015
Remarks -
Gender F
Consanguinity no
Country Spain
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases Crouzon
Owner name Karen E. Heath
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Karen E. Heath


Phenotypes

Crouzon syndrome (Crouzon)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000017620 - - - Unknown - - - - - Karen E. Heath



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019759 DNA SEQ - - FGFR2 1 Karen E. Heath



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/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     
10 Unknown +?/. - likely pathogenic g.123279599C>A g.121520085C>A - - FGFR2_000004 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - 0 - Karen E. Heath FGFR2 - - - - 7 NM_000141.4:c.833G>T - r.(?) p.(Cys278Phe) - - - - - - - - - - - - - - - - - - -
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