Individual #00000793

Reference Keng E Choo et al.(2006)
Gender M
Geographic origin Sarawak
Ethnic origin Iban-Chinese
Population -
Remarks patient had Southeast Asian ovalocytosis (SAO)
Microattribution -
Panel size 1
Diseases DRTA
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 10:04:40 +08:00 (CST)
Date last edited 2021-07-25 13:21:39 +08:00 (CST)


Phenotypes

Recessive Distal Renal Tubular Acidosis (DRTA)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000309 He was a pale and wasted child weighing 9.4 kg, who was hypotonic and too weak to stand, with a palpable spleen, but no clinical evidence of bone disease. - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000887 DNA SEQ;SSCA SLC4A1 4 Nur Aisyah Athirah



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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     
17 Unknown +/. g.10485T>C - Keng E Choo et al.(2006) SLC4A1_000004 rs55773290 - - Nur Aisyah Athirah SLC4A1 3 NM_000342.4:c.92T>C M31T r.(?) p.(Met31Thr) - Benign/Likely benign​
17 Unknown +/. g.11558A>G - Keng E Choo et al.(2006) SLC4A1_000002 rs5036 - - Nur Aisyah Athirah SLC4A1 4 NM_000342.4:c.166A>G K56E r.(?) p.(Lys56Glu) - Benign/Likely benign​
17 Unknown +/. g.15066_15092del - Keng E Choo et al.(2006) SLC4A1_000006 rs769664228 - - Nur Aisyah Athirah SLC4A1 11 NM_000342.4:c.1199_1225del 1198_1224del r.(?) p.(Ala400_Ala408del) - Pathogenic/Likely pathogenic​
17 Unknown +/. g.19808G>A - Keng E Choo et al.(2006) SLC4A1_000005 rs121912748 - - Nur Aisyah Athirah SLC4A1 17 NM_000342.4:c.2102G>A G701D r.(?) p.(Gly701Asp) - Pathogenic​
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