Individual #00207500

ID_report 12336-Pat1
Reference -
Remarks 2 affecteds
Gender F
Consanguinity yes
Country -
Population -
Age/Death >10y (later than 10 years)
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases BVVLS-1
Owner name Gunnar Schmidt


Phenotypes

Brown-Vialetto-Van Laere syndrome, type 1 (BVVLS-1) (BVVLS-1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000155279 visual impairment (HP:0000505) hearing impairment (HP:0000365) no abnormality of the liver (-HP:0001392) - BVVLS Familial, autosomal recessive 05y 05y - - - Gunnar Schmidt



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208538 DNA SEQ-NG-I peripheral blood WES - 2 Gunnar Schmidt
0000208555 DNA MLPA peripheral blood - ATP7B 0 Gunnar Schmidt
0000208556 DNA SEQ peripheral blood - ATP7B 1 Gunnar Schmidt



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     

Non_Public     
13 Both (homozygous) g.52585454_52585455del - - - ATP7B_000131 in vitro studies indicate circumvention of NMD through translation reinitiation - - - Germline/De novo (untested) - - - 0 - Gunnar Schmidt ATP7B -?/. - - - - - - NM_000053.3:c.19_20del - ACMG: 2 r.(?) p.(Pro2_Met33del) - - - - - - - - - - - - - - - - - - - - - - - -
20 Both (homozygous) g.741763del - - - SLC52A3_000018 - - - - Germline/De novo (untested) - - - 0 - Gunnar Schmidt SLC52A3 +/. - - - - - - NM_033409.3:c.1317del - ACMG: 4 r.(?) p.(Ser440Argfs*65) - - - - - - - - - - - - - - - - - - - - - - - -
Legend