Individual #00295970

ID_report -
Reference -
Remarks -
Gender M
Consanguinity no
Country United States
Population -
Age at death 00y00m05d00h
VIP -
Data_av -
Treatment -
Panel size 1
Diseases NLS2
Owner name Fatima Abdelfattah
Database submission license No license selected
Created by Fatima Abdelfattah
Date created 2020-03-31 12:18:47 +02:00 (CEST)
Date last edited 2020-04-26 10:46:36 +02:00 (CEST)


Phenotypes

Neu-Laxova syndrome, tyep 2 (NLS-2) (NLS2)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000227019 HP:0001511, HP:0000470,HP:0000377,HP:000369, HP:0000347, HP:0000518, HP:0000492, HP:000252, HP:0001339, HP:0001321, HP:00012714, HP:0002514, HP:0001371, HP:0001838, HP:0001762, HP:0008064, HP:0000951, HP:0002089, HP:0003241 - - Familial, autosomal recessive - - - - - Fatima Abdelfattah



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000297141 DNA SEQ;SEQ-NG - - PSAT1 1 Fatima Abdelfattah
0000301348 DNA SEQ - the individual was compound heterozygous and the second allel was c.296C>T g.80919755C>T p.(Ala99Val) - 1 Fatima Abdelfattah



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     

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VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

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VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

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Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
9 Parent #2 +/. - pathogenic (recessive) g.80919755C>T g.78304839C>T - - PSAT1_000016 - - - - Germline - - - - - Fatima Abdelfattah PSAT1 - - - - - NM_021154.3:c.296C>T - r.(?) p.(Ala99Val) - - - - - - - - - - - - - -
9 Parent #1 +?/. - pathogenic (recessive) g.80942966G>T g.78328980G>T - - PSAT1_000012 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. - - - Germline - - - - - Fatima Abdelfattah PSAT1 - - - - - NM_021154.3:c.870-1G>T - r.spl p.0? - - - - - - - - - - - - - -
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