Individual #00000429

Reference Suet-Fang Liew (2009)
Gender -
Geographic origin Setapak, KL
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases Obesity
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 2021-02-18 10:50:47 +08:00 (CST)
Date last edited 2021-08-01 12:57:22 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000459 DNA PCRdig LEP 1 Nur Aisyah Athirah
0000000460 DNA PCRdig LEPR 3 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     
1 Unknown +/. g.65570758A>G K109R - LEPR_000001 rs1137100 - - Nur Aisyah Athirah LEPR 4 NM_002303.5:c.326A>G - r.(?) p.(Lys109Arg) - Benign
1 Unknown +/. g.65592830A>G Q223R ClinVar LEPR_000002 rs1137101 - - Nur Aisyah Athirah LEPR 6 NM_002303.5:c.668A>G - r.(?) p.(Gln223Arg) - Benign
1 Unknown +/. g.65610269G>T K656N ClinVar LEPR_000003 rs1805094 - - Nur Aisyah Athirah LEPR 14 NM_002303.5:c.1968G>T - r.(?) p.(Lys656Asn) - Uncertain significance
7 Unknown +/. g.128241296G>A A19G ClinVar LEP_000001 rs2167270 - - Nur Aisyah Athirah LEP 1 NM_000230.2:c.-39G>A - r.(=) p.(=) - Likely benign
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