Individual #00019780

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


Phenotypes

Muenke syndrome (MNKES) (MNKES)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000017627 - - - Unknown - - - - - Karen E. Heath



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019764 DNA SEQ - - FGFR2 1 Karen E. Heath
0000019781 DNA SEQ - - FGFR3 1 Karen E. Heath



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
4 Unknown +/. - pathogenic g.1803571C>G g.1801844C>G - - FGFR3_000003 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - 0 - Karen E. Heath FGFR3 - - - - 7 NM_000142.4:c.749C>G - r.(?) p.(Pro250Arg) - - - - - - - - - - - - - - - - - - -
10 Unknown +?/. - likely pathogenic g.123276910T>C g.121517396T>C - - FGFR2_000026 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - - Unknown - - - 0 - Karen E. Heath FGFR2 - - - - 8 NM_000141.4:c.1007A>G - r.(?) p.(Asp336Gly) - - - - - - - - - - - - - - - - - - -
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