Individual #00359578

ID_report 177428
Reference -
Remarks -
Gender M
Consanguinity ?
Country Hungary
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases AHC
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner


Phenotypes

adrenal hypoplasia, congenital (AHC, with hypogonadotropic hypogonadism) (AHC)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000254836 (+) Apathy,(+) Small for gestational age,(+) Hypoglycemia,(+) Dehydration,(+) Neonatal hypoglycemia,(+) Vomiting,(+) Nausea and vomiting,(+) Poor suck,(+) Hyperkalemia,(+) Hyponatremia,(+) Hyperbilirubinemia,(+) Muscle spasm,(+) Fatigable weakness,(+) Hypocapnia - - Unknown 00y02m - - - - Andreas Laner



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000360806 DNA SEQ-NG-I - - NR0B1 1 Andreas Laner



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)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

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Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

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Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
X Maternal (inferred) +?/. ACMG likely pathogenic (recessive) g.30326352C>T - - - NR0B1_000039 ACMG: Class 4 (PS4_MOD, PM1, PS3_SUP, PM2_SUP, PP3) PMID: 11443184, PMID: 28741070, PMID: 23018754 - - Germline ? - - - - Andreas Laner NR0B1 - - - - - NM_000475.4:c.1129G>A - r.(?) p.(Glu377Lys) - - - - - - - - - - - - - - - - - - -
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