Individual #00081472

ID_report -
Reference PubMed: Callewaert 2013, Journal: Callewaert 2013
Remarks -
Gender F
Consanguinity yes
Country Spain
Population unknown
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ARCL-1C
Owner name Bert Callewaert
Database submission license No license selected
Created by Bert Callewaert


Phenotypes

cutis laxa, autosomal recessive, type IC (ARCL-1C) (ARCL-1C)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Age/Examination     

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Protein     

Owner     
0000061057 mild cutis laxa (generalized with later onset), mild pulmonary emphysema, perpheral pulmonary artery stenoses, tricuspid regurgitation, prominent forehead, blepharophimosis, epicanthal folds, short nose, elongated philtrum, lowset ears, webbed neck, low posterior hear-line, pelvic insufficiency, brain abcesses. - - Familial, autosomal recessive 13y - - - - Bert Callewaert



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081602 DNA SEQ - - LTBP4 1 Bert Callewaert



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)     

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ISCN     

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Exon_old     

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Predicted     

Type/DNA     

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CpG     

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mRNA level     

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Legacy protein change     

Protein level     
19 Both (homozygous) +/. - pathogenic g.41132933C>T g.40627028C>T - - LTBP4_000010 not found in 100 controls PubMed: Callewaert 2013, Journal: Callewaert 2013 - - Germline - - - 0 - Bert Callewaert LTBP4 - - - - - - NM_003573.2:c.4129C>T - r.(?) p.(Arg1377*) - - - - - - - - - - - - - - - - - - - -
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