Individual #00375209

ID_report -
Reference -
Remarks -
Gender M
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2021-05-31 12:03:02 +02:00 (CEST)
Date last edited 2021-06-01 16:50:31 +02:00 (CEST)


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000270419 - - Abdominal symptom (HP:0011458); Neurodevelopmental abnormality (HP:0012759); Constipation (HP:0002019); Delayed speech and language development (HP:0000750) Unknown - - - - - - - Andreas Laner



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000376403 DNA SEQ-NG-S - - - 2 Andreas Laner



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     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
1 Unknown ?/. - VUS g.27088750_27088751delinsAA - 2359T>A;2360C>A - ARID1A_000185 - - - - Germline - - - - - Andreas Laner ARID1A - - - - - NM_006015.4:c.2359_2360delinsAA - r.(?) p.(Ser787Asn) - - - - - - - - - - - - - -
10 Unknown +/. ACMG pathogenic g.43609076G>A - - - RET_000006 ACMG grading: PS3,PM2,PM5,PP3 Landsvater et al. 1996. Hum 97: 11; Kaserer et al. 2001. Am J Surg Pathol 25: 1245; Liu et al. 2017. Medicine 96: 5967; Schuurman et al. 2001. Neth J Med 58: 236; Sjursen et al. 2013. Fam Cancer 12: 529; Ito et al. 1997. Cancer Res 57: 2870-2 - rs377767397 Germline - - - - - Andreas Laner RET - - - - - NM_020975.4:c.1832G>A - r.(?) p.(Cys611Tyr) - - - - - - - - - - - - - -
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