Individual #00000226

Reference Emmilia Husni Tan et al. (2012)
Gender -
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases GEFS+
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 2020-12-06 15:50:01 +08:00 (CST)
Date last edited 2020-12-14 17:22:39 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000241 DNA DHPLC;PCR SCN1A 7 Nuur Athirah Binti Mohd Daud



Variants

7 entries on 1 page. Showing entries 1 - 7.
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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     
2 Unknown +/. g.165992045T>C N1733D,A5197G Emmilia Husni Tan et al. (2012) SCN1A_000007 rs376234802 1/9 - Nuur Athirah Binti Mohd Daud SCN1A 26 NM_001165963.2:c.5230A>G - r.(?) p.(Asn1744Asp) - -
2 Unknown +/. g.165994208T>C H1583R,A4748G Emmilia Husni Tan et al. (2012) SCN1A_000006 - 1/9 - Nuur Athirah Binti Mohd Daud SCN1A 25 NM_001165963.2:c.4790A>G - r.(?) p.(His1597Arg) - -
2 Unknown +/. g.165999737C>G V1432L,G4291C Emmilia Husni Tan et al. (2012) SCN1A_000005 - 1/9 - Nuur Athirah Binti Mohd Daud SCN1A 22 NM_001165963.2:c.4324G>C - r.(?) p.(Val1442Leu) - -
2 Unknown +/. g.166038079C>G K871N,G2610C Emmilia Husni Tan et al. (2012) SCN1A_000004 rs776985592 1/9 - Nuur Athirah Binti Mohd Daud SCN1A 15 NM_001165963.2:c.2643G>C - r.(?) p.(Lys881Asn) - -
2 Unknown +/. g.166039573T>A P814P,T2439A Emmilia Husni Tan et al. (2012) SCN1A_000003 rs34835657 1/9 - Nuur Athirah Binti Mohd Daud SCN1A 14 NM_001165963.2:c.2439A>T - r.(=) p.(=) - -
2 Unknown +/. g.166042295C>T E715K Emmilia Husni Tan et al. (2012) SCN1A_000002 rs192221816 1/9 - Nuur Athirah Binti Mohd Daud SCN1A 12 NM_001165963.2:c.2173G>A - r.(?) p.(Glu725Lys) - -
2 Unknown +/. g.166046888G>A A420V Emmilia Husni Tan et al. (2012), dbSNP, ClinVar SCN1A_000001 rs794726826 1/9 - Nuur Athirah Binti Mohd Daud SCN1A 9 NM_001165963.2:c.1259C>T - r.(?) p.(Ala420Val) - ClinVar
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