Individual #00163998

ID_report 24997988-Pat2
Reference PubMed: Thauvin-Robinet 2014
Remarks male fetus
Gender M
Consanguinity no
Country France
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases OFD-14
Owner name Johan den Dunnen


Phenotypes

orofaciodigital syndrome, type XIV (OFD-14) (OFD-14)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000129101 fetus 22w gestation; facial dysmorphism, no cleft tongue, no lobulated tongue, buccal frenulae, no lingual hamartoma, no cleft palate, no absent epiglottis, bilaterail hand post axial polydactyly, bilateral broad hallux; microcephaly (brain weight 50g, -4 SD); vermian hypoplasia; incomplete corpus callosum agenesis, subarachnoid cysts, no myelinisation defect, no cardiac malformations; right renal hypoplasia; micropenis - - Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000164864 DNA;RNA RT-PCR;SEQ - - C2CD3 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Chr     

Allele     

Effect     

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     

ClassClinical     

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     

Protein level     
11 Parent #2 +/. g.73796017T>A - - - C2CD3_000019 - PubMed: Thauvin-Robinet 2014, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen C2CD3 - - - - - 21i NM_015531.4:c.3911-2A>T - pathogenic r.3911_3914del p.Ala1304Valfs*3 - - - - - - - - - - - - - - - - - - -
11 Parent #1 +/. g.73806348A>C - - - C2CD3_000018 - PubMed: Thauvin-Robinet 2014, OMIM:var0002 - - Germline - - - 0 - Johan den Dunnen C2CD3 - - - - - 17 NM_015531.4:c.3085T>G - - r.(?) p.(Cys1029Gly) - - - - - - - - - - - - - - - - - - -
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