Individual #00000159

Reference Kheng-Seang Lim et al. (2015)
Gender -
Geographic origin Malaysia
Ethnic origin Kadazandusun
Population Rungus
Remarks -
Microattribution -
Panel size 1
Diseases CADASIL
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 2020-11-18 11:07:18 +08:00 (CST)
Date last edited 2020-12-14 11:45:44 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000174 DNA PCR;SEQ NOTCH3 2 Nuur Athirah Binti Mohd Daud



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
19 Unknown ./. g.15188237G>A S497L Kheng-Seang Lim et al. (2015), dbSNP, ClinVar NOTCH3_000005 rs114207045 6 - Nuur Athirah Binti Mohd Daud NOTCH3 9 NM_000435.2:c.1490C>T - r.(?) p.(Ser497Leu) - ClinVar
19 Unknown ./. g.15197537G>A R54C Kheng-Seang Lim et al. (2015), dbSNP, ClinVar NOTCH3_000004 rs1555730189 2 - Nuur Athirah Binti Mohd Daud NOTCH3 2 NM_000435.2:c.160C>T - r.(?) p.(Arg54Cys) - ClinVar
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