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


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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