Individual #00019704

ID_report -
Reference PubMed: Kelsell 2005
Remarks -
Gender -
Consanguinity -
Country United Kingdom (Great Britain)
Population white
Age at death >4y (later than 4 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ARCI4A
Owner name Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Marianne Vos (LOVD-team)


Phenotypes

ichthyosis, congenital, autosomal recessive, type 4A (ARCI-4A) (ARCI4A)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

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Phenotype/Onset     

Protein     

Owner     
0000017506 harlequin ichthyosis (HI); severe ichthyosiform erythroderma - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019691 DNA SEQ ? - ABCA12 3 Marianne Vos (LOVD-team)



Variants

3 entries on 1 page. Showing entries 1 - 3.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

ClinVar ID     

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Owner     

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IDbase Accession Number     

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Exon_old     

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Predict/Grantham     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

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Predict/Splice     

Legacy protein change     

Protein level     
2 Maternal (confirmed) +/. - pathogenic g.(215896621_215901676)_(215901790215910560)del - del exon 8 - ABCA12_000007 - PubMed: Thomas 2006 - - Germline yes - - 0 - Marianne Vos (LOVD-team) ABCA12 - - - - 7i_8i NM_173076.2:c.(872+1_873-1)_(985+1_986-1)del - r.(del) p.? - - - - - - - - - - - - - - - - - - -
2 Paternal (confirmed) -/. - benign g.215901592A>G g.215036868A>G - - ABCA12_000009 - PubMed: Kelsell 2005 - - Germline yes - - 0 - Marianne Vos (LOVD-team) ABCA12 - - - - 8i NM_173076.2:c.985+85T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
2 Paternal (confirmed) -/. - benign g.215901774C>T g.215037050C>T V296V - ABCA12_000008 - PubMed: Kelsell 2005 - - Germline yes - - 0 - Marianne Vos (LOVD-team) ABCA12 - - - - 8 NM_173076.2:c.888G>A - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
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