Individual #00000213

Reference Ernie Zuraida Ali et al. (2019)
Gender M
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases ASLD
Owner name Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-02 11:58:42 +08:00 (CST)
Date last edited 2020-12-14 17:15:53 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000228 DNA PCR;SEQ ASL 4 Nuur Athirah Binti Mohd Daud



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     
7 Both (homozygous) ?/. g.66086775C>T - Ernie Zuraida Ali et al. (2019),dbSNP,ClinVar ASL_000005 rs369512467 2/5 - Nuur Athirah Binti Mohd Daud ASL 7 NM_000048.3:c.556C>T - r.(?) p.(Arg186Trp) - ClinVar
7 Unknown ./. g.66086797G>A - Ernie Zuraida Ali et al. (2019), dbSNP, ClinVar ASL_000007 rs373697663 1/5 - Nuur Athirah Binti Mohd Daud ASL 7 NM_000048.3:c.578G>A - r.(?) p.(Arg193Gln) - ClinVar
7 Unknown ?/. g.66087369G>A - Ernie Zuraida Ali et al. (2019), dbSNP, ClinVar ASL_000001 rs1449589636 1/5 - Nuur Athirah Binti Mohd Daud ASL 8 NM_000048.3:c.638G>A - r.(?) p.(Arg213Gln) - ClinVar
7 Unknown +/. g.66088866C>T - Ernie Zuraida Ali et al. (2019)ClinVar ASL_000008 - 1/5 - Nuur Athirah Binti Mohd Daud ASL 10 NM_000048.3:c.778C>T - r.(?) p.(Leu260Phe) - ClinVar
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