Individual #00079709

ID_report -
Reference -
Remarks previous child (now deceased) also affected
Gender M
Consanguinity -
Country United States
Population Caucasian
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases FADS
Owner name Tom Winder


Phenotypes

akinesia, fetal, deformation sequence (FADS) (FADS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000059422 Familial, autosomal recessive - - Familial, autosomal recessive - - <1d - - Tom Winder



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079783 DNA SEQ-NG - - KLHL40 2 Tom Winder



Variants

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

Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
3 Parent #1 g.42727711T>C g.42686219T>C - - KLHL40_000026 - - - - Germline - - - 0 - Tom Winder KLHL40 +?/+? - - - - - 1 NM_152393.3:c.601T>C - - r.(?) p.(Trp201Arg) - - - - - - - - - - - - - - - - - - - - - - -
3 Parent #2 g.42730210G>T g.42688718G>T - - KLHL40_000027 - - - - Germline - - - 0 - Tom Winder KLHL40 +?/+? - - - - - 3i NM_152393.3:c.1421+1G>T - - r.spl p.? - - - - - - - - - - - - - - - - - - - - - - -
Legend