Individual #00000582

Reference P Balraj et al.(2013)
Gender -
Geographic origin Malaysia
Ethnic origin Malay
Population -
Remarks -
Microattribution -
Panel size 1
Diseases CAH
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 2021-04-18 10:46:25 +08:00 (CST)
Date last edited 2021-08-01 14:09:54 +08:00 (CST)


Phenotypes

Congenital Adrenal Hyperplasia (CAH)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000202 salt wasting, simple virilizing - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000643 DNA MLPA;PCRdig;SEQ;Southern CYP21A2 5 Nur Aisyah Athirah



Variants

5 entries on 1 page. Showing entries 1 - 5.
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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     
6 Unknown +/. g.5210C>T p.P30L P Balraj et al.(2013) CYP21A2_000005 rs9378251 - - Nur Aisyah Athirah CYP21A2 - NM_000500.9:c.92C>T - r.(?) p.(Pro31Leu) - Pathogenic
6 Unknown +/. g.5777C>G IVS2-13A/C>G P Balraj et al.(2013) CYP21A2_000002 rs6467 - - Nur Aisyah Athirah CYP21A2 2i NM_000500.9:c.293-13C>G - r.(=) p.(=) - Pathogenic
6 Unknown +/. g.6122T>A p.I172N P Balraj et al.(2013) CYP21A2_000003 rs6475 - - Nur Aisyah Athirah CYP21A2 4 NM_000500.9:c.515T>A - r.(?) p.(Ile172Asn) - Pathogenic
6 Unknown +/. g.7117C>T p.Q318X P Balraj et al.(2013) CYP21A2_000004 rs7755898 - - Nur Aisyah Athirah CYP21A2 8 NM_000500.9:c.955C>T - r.(?) p.(Gln319*) - Pathogenic
6 Unknown +/. g.7231C>T p.R356W P Balraj et al.(2013) CYP21A2_000001 rs7769409 - - Nur Aisyah Athirah CYP21A2 8 NM_000500.9:c.1069C>T - r.(?) p.(Arg357Trp) - Pathogenic
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