Individual #00448693

ID_report 291345
Reference -
Remarks -
Gender M
Consanguinity no
Country Germany
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases Andersen syndrome
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2024-04-12 11:29:08 +02:00 (CEST)
Date last edited 2024-04-15 12:24:50 +02:00 (CEST)


Phenotypes

Andersen syndrome (-)   Add phenotype for this disease

AscendingPhenotype ID     

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Protein     

Owner     
0000337867 Cleft palate, Sacral dimple, Contracture of thumb - - Unknown 00y06m - - - - Andreas Laner



Screenings


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Owner     
0000450284 DNA SEQ-NG-I Blood - KCNJ2 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)     

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ISCN     

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Exon     

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mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
17 Unknown +?/. ACMG pathogenic (dominant) g.68171610G>A g.70175469G>A - - KCNJ2_000023 ACMG: PS4_MOD, PM5, PP3_MOD, PS2_SUP, PS3_SUP, PM2_SUP, PP2 PMID: 11371347, 12163457, 12909315, 14522976, 22002906 VCV000067573.6 - Germline ? - LanerMGZ - - Andreas Laner KCNJ2 - - - - 2 NM_000891.2:c.430G>A - r.(?) p.(Gly144Ser) - - - - - - - - - - - - - -
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