Individual #00016860

ID_report ID44
Reference -
Remarks NF1 patient
Gender F
Consanguinity ?
Country (Germany)
Population -
Age/Death ?
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases NF-1
Owner name Denise Emmerich


Phenotypes

neurofibromatosis, type 1 (NF-1) (NF-1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000016166 - - - Unknown - - - - - Denise Emmerich



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016896 DNA SEQ-NG-I skin, tumor - NF1 6 Denise Emmerich
0000016897 DNA SEQ-NG-I Tumor - HMCN1 1 Denise Emmerich
0000016898 DNA SEQ-NG-I Tumor - AZI1 1 Denise Emmerich



Variants

8 entries on 1 page. Showing entries 1 - 8.
Legend  

Chr     

Allele     

Effect     

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     

ClassClinical     

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     

Protein level     
1 Unknown ?/. g.186088422A>G g.186119290A>G - - HMCN1_000001 - - - - Somatic - - - 0 - Denise Emmerich HMCN1 - - - - - 78 NM_031935.2:c.11948A>G - - r.(?) p.(His3983Arg) - - - - - - - - - - - - - - - - - - -
17 Unknown +/+ g.29533321_29533328del g.31206303_31206310del 1324_1331delATGTTTGG - NF1_002147 - - - - Somatic - - - 0 - Denise Emmerich NF1 - - - - - 12 NM_000267.3:c.1324_1331del - pathogenic r.(?) p.(Met442*) - - - - - - - - - - nonsense deletion - - - - - - -
17 Unknown +/+ g.29557330del g.31230312delC - - NF1_002001 - - - - Somatic - - - 0 - Denise Emmerich NF1 - - - - - 23 NM_000267.3:c.3043delC - pathogenic r.(?) p.(Leu1015fs) - - - - - - - - - - - - - - - - - - -
17 Unknown +/+ g.29557401G>A g.31230383G>A - - NF1_000306 - - - - Germline - - - 0 - Denise Emmerich NF1 - - - - - 23i NM_000267.3:c.3113+1G>A - pathogenic r.spl? p.? - - - - - - - - - - - - - - - - - - -
17 Unknown +/+ g.29670123_29670128delAACTTT g.31343105_31343110del 7096_7101delAACTTT - NF1_000845 - - - - Somatic - - - 0 - Denise Emmerich NF1 - - - - - 48 NM_000267.3:c.7096_7101del - pathogenic r.(?) p.(Asn2366_Phe2367del) - - - - - - - - - - deletion deletion - - - - - - -
17 Unknown +/+ g.29684326C>T g.31357308C>T - - NF1_000910 - - - - Somatic - - - 0 - Denise Emmerich NF1 - - - - - 54 NM_000267.3:c.7846C>T - pathogenic r.(?) p.(Arg2616*) - - - - - - - - - - nonsense substitution - - - - - - -
17 Unknown +/+ g.29687519delA g.31360501del - - NF1_002002 - - - - Somatic - - - 0 - Denise Emmerich NF1 - - - - - 57 NM_000267.3:c.8112del - pathogenic r.(?) p.(Asp2705fs) - - - - - - - - - - frameshift deletion - - - - - - -
17 Unknown ?/. g.79165131G>A g.81191331G>A - - AZI1_000002 - - - - Somatic - - - 0 - Denise Emmerich AZI1 - - - - - 22 NM_014984.2:c.2627C>T - - r.(?) p.(Ala876Val) - - - - - - - - - - - - - - - - - - -
Legend