Individual #00000797

Reference Yee Lin Lee et al.(2020)
Gender F
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases CHARGE
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-07-19 14:38:44 +08:00 (CST)
Date last edited 2021-07-25 13:10:52 +08:00 (CST)


Phenotypes

CHARGE Syndrome (CHARGE)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000312 constitutional delay in growth and puberty, she was pre-pubertal with no breast, axillary hair or pubic hair development, a CT scan of the temporal bones showed absence of all the semicircular canals bilaterally - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000891 DNA SEQ CHD7 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     
8 Unknown +/. g.182214C>T - Yee Lin Lee et al.(2020) CHD7_000001 rs121434341 - - Nur Aisyah Athirah CHD7 - NM_017780.4:c.6955C>T - r.(?) p.(Arg2319Cys) - Pathogenic
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