Individual #00000550

Reference S Balasubramaniam et al.(2010)
Gender F
Geographic origin Malaysia
Ethnic origin Chinese
Population -
Remarks -
Microattribution -
Panel size 1
Diseases MWS
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah


Phenotypes

Mowat-Wilson Syndrome (MWS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000188 Growth parameters below the 3rd percentile, had sparse, coarse hair, medially flared thick eyebrows, hypertelorism, a saddle nose, epicanthic folds, a pair of prominent simple ears with uplifted ear lobes, long tapered fingers and a prominent pointed chin, severe constipation during the neonatal period, hypotonic, globally delayed and dysmorphic. - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000601 DNA PCR;SEQ ZEB2 1 Nur Aisyah Athirah



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
2 Unknown +/. g.144401194C>A - S Balasubramaniam et al.(2010) ZEB2_000001 rs1553127245 - - Nur Aisyah Athirah ZEB2 7 NM_014795.3:c.916+5G>T - r.spl? p.? - -
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