Individual #00000212

Reference Ernie Zuraida Ali et al. (2019)
Gender F
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 11:18:54 +08:00 (CST)
Date last edited 2020-12-14 17:15:26 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000227 DNA PCR;SEQ ASL 6 Nuur Athirah Binti Mohd Daud



Variants

6 entries on 1 page. Showing entries 1 - 6.
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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 Unknown ?/. g.66083164C>G - Ernie Zuraida Ali et al. (2019)dbSNPClinVar ASL_000004 rs1007569346 1/8 - Nuur Athirah Binti Mohd Daud ASL 5 NM_000048.3:c.436C>G - r.(?) p.(Arg146Gly) - ClinVar
7 Unknown +/. g.66083164C>T - Ernie Zuraida Ali et al. (2019), ClinVar ASL_000002 - 1/8 - Nuur Athirah Binti Mohd Daud ASL 5 NM_000048.3:c.436C>T - r.(?) p.(Arg146Trp) - -
7 Unknown ?/. g.66086775C>T - Ernie Zuraida Ali et al. (2019)dbSNPClinVar ASL_000005 rs369512467 1/8 - Nuur Athirah Binti Mohd Daud ASL 7 NM_000048.3:c.556C>T - r.(?) p.(Arg186Trp) - ClinVar
7 Unknown +/. g.66086814C>G - Ernie Zuraida Ali et al. (2019)dbSNPClinVar ASL_000006 rs77632964 1/8 - Nuur Athirah Binti Mohd Daud ASL 7 NM_000048.3:c.595C>G - r.(?) p.(Leu199Val) - ClinVar
7 Both (homozygous) ?/. g.66087369G>A - Ernie Zuraida Ali et al. (2019), dbSNP, ClinVar ASL_000001 rs1449589636 3/8 - Nuur Athirah Binti Mohd Daud ASL 8 NM_000048.3:c.638G>A - r.(?) p.(Arg213Gln) - ClinVar
7 Unknown +/. g.66092857G>C - Ernie Zuraida Ali et al. (2019) ASL_000003 rs1465993279 1/8 - Nuur Athirah Binti Mohd Daud ASL 15 NM_000048.3:c.1340G>C - r.(?) p.(Ser447Thr) - -
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