Individual #00305404

ID_report Pat3
Reference PubMed: Le Goff 2013, Journal: Le Goff 2013
Remarks -
Gender M
Consanguinity -
Country France
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases FLHS
Owner name Carine Le Goff
Database submission license No license selected
Created by Carine Le Goff
Date created 2012-08-29 16:43:11 +02:00 (CEST)
Date last edited N/A


Phenotypes

Floating-Harbor syndrome (FLHS) (FLHS)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Onset     

Diagnosis/Definite     

Age/Examination     

Phenotype details     

Age/Diagnosis     

Birth_Details     

Phenotype/Onset     

Height-Weight-OFC     

Face/Philtrum     

Protein     

Owner     
0000231254 Floating-Harbor syndrome Isolated (sporadic) - FLHS 7y6m birth weight 2960 kg, length 48 cm, OFC 37 cm; 7y6m -weight 20 kg, height 112 cm, OFC 52 cm; triangular face; long nose; low hanging; columella; short philtrum, thin upper lip, wide mouth, short neck; clinodactyly, brachydactyly, short first MC; no digestive abnormalities; delayed bone age; hypernasal voice; mild developmental delay; inguinal hernia; no puberty - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000306533 DNA SEQ-NG-I - - SRCAP 1 Carine Le Goff



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     
16 Unknown +/. - pathogenic (dominant) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Le Goff 2013, Journal: Le Goff 2013 - - De novo - - - - - Carine Le Goff SRCAP - - - - 34 NM_006662.2:c.7303C>T - r.(?) p.(Arg2435*) - - - - - - - - - - - - - -
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