Individual #00019740

ID_report -
Reference PubMed: Thomas 2008
Remarks -
Gender -
Consanguinity -
Country -
Population Scandinavia, Bosnian
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ARCI-4A
Owner name Marianne Vos (LOVD-team)


Phenotypes

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

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000017543 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019725 DNA SEQ blood - ABCA12 2 Marianne Vos (LOVD-team)



Variants

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

Allele     

Effect     

Classification method     

Clinical classification     

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     

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     

Legacy protein change     

Protein level     
2 Parent #2 +/. - pathogenic g.215854297G>A g.214989573G>A - - ABCA12_000034 - PubMed: Thomas 2008 - - Germline yes - - 0 - Marianne Vos (LOVD-team) ABCA12 - - - - - 25 NM_173076.2:c.3673C>T - r.(?) p.(Arg1225*) - - - - - - - - - - - - - - - - - - - -
2 Parent #1 +/. - pathogenic g.215862443A>C g.214997719A>C - - ABCA12_000033 - PubMed: Thomas 2008 - - Germline yes - - 0 - Marianne Vos (LOVD-team) ABCA12 - - - - - 23 NM_173076.2:c.3270T>G - r.(?) p.(Tyr1090*) - - - - - - - - - - - - - - - - - - - -
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