Individual #00000774

Reference Anna Mensa-Vilaro et al.(2016)
Gender -
Geographic origin Malaysia
Ethnic origin Malay
Population -
Remarks -
Microattribution -
Panel size 1
Diseases BLAUS
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah


Phenotypes

Blau Syndrome (BLAUS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000297 reddish brown maculopapular skin rashes, chronic and symmetric rheumatoid factor–negative polyarthritis affecting both large joints (knees, ankles, elbows, and wrists) and small joints (metacarpophalangeal joints), tenosynovitis, recurrent bilateral anterior uveitis, fever, hepatomegaly - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000868 DNA PCR;SEQ NOD2 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     

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Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

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RNA change     

Protein     

GVS function     

Clinical classification     
16 Unknown +/. g.50710912G>A - Anna Mensa-Vilaro et al.(2016) NOD2_000001 rs104895461 - - Nur Aisyah Athirah NOD2 4 NM_022162.2:c.1001G>A - r.(?) p.(Arg334Gln) - Pathogenic
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