Individual #00000573

Reference Yock-Ping Chow et al.(2017)
Gender F
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks Sister #1
Microattribution -
Panel size 1
Diseases PDS
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 2021-04-07 11:09:02 +08:00 (CST)
Date last edited 2021-08-01 14:06:57 +08:00 (CST)


Phenotypes

Pendred syndrome (PDS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000199 diffused multinodular goiter, bilateral profound sensorineural hearing loss>60 dB, cochlear hypoplasia - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000624 DNA PCR;PFGE;SEQ DUOX2 2 Nur Aisyah Athirah
0000000625 DNA PCR;PAGE;SEQ SLC26A4 1 Nur Aisyah Athirah
0000000626 DNA PCR;PFGE;SEQ GJB2 1 Nur Aisyah Athirah
0000000627 DNA PCR;PFGE;SEQ SCARB2 1 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     
4 Unknown +/. g.76174224G>A - Yock-Ping Chow et al.(2017) SCARB2_000001 rs148588727 - - Nur Aisyah Athirah SCARB2 - NM_005506.3:c.914C>T - r.(?) p.(Thr305Met) - Uncertain significance
7 Unknown +/. g.107694622C>T - Yock-Ping Chow et al.(2017) SLC26A4_000001 rs747076316 - - Nur Aisyah Athirah SLC26A4 - NM_000441.1:c.1343C>T - r.(?) p.(Ser448Leu) - Likely pathogenic
13 Unknown +/. g.20189214G>T - Yock-Ping Chow et al.(2017) GJB2_000006 rs111033188 - - Nur Aisyah Athirah GJB2 - NM_004004.6:c.368C>A - r.(?) p.(Thr123Asn) - Benign/Likely benign
15 Unknown +/. g.45099748C>T - Yock-Ping Chow et al.(2017) DUOX2_000002 rs368488511 - - Nur Aisyah Athirah DUOX2 - NM_001363711.2:c.3329G>A - r.(?) p.(Arg1110Gln) - Pathogenic
15 Unknown +/. g.45107450T>A - Yock-Ping Chow et al.(2017) DUOX2_000003 rs180671269 - - Nur Aisyah Athirah DUOX2 - NM_014080.5:c.1588A>T - r.(?) p.(Lys530*) - Pathogenic
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