Individual #00000242

Reference Siti Aishah Zainal et al. (2012)
Gender -
Geographic origin Malaysia
Ethnic origin Malay
Population Kelantan
Remarks -
Microattribution -
Panel size 1
Diseases NSHL
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 2020-12-10 14:39:34 +08:00 (CST)
Date last edited 2020-12-14 17:48:07 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000000257 DNA DHPLC;SEQ GJB2 13 Nuur Athirah Binti Mohd Daud



Variants

13 entries on 1 page. Showing entries 1 - 13.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

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DB-ID     

dbSNP ID     

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DNA change (cDNA)     

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Clinical classification     
13 Parent #2 +/. g.20189202C>T - Siti Aishah Zainal et al. (2012), dbSNP, ClinVar GJB2_000007 rs111033196 2/32 - Nuur Athirah Binti Mohd Daud GJB2 - NM_004004.6:c.380G>A - r.(?) p.(Arg127His) - ClinVar
13 Parent #2 ./. g.20189214G>T - Siti Aishah Zainal et al. (2012), dbSNP, ClinVar GJB2_000006 rs111033188 1/32 - Nuur Athirah Binti Mohd Daud GJB2 - NM_004004.6:c.368C>A - r.(?) p.(Thr123Asn) - ClinVar
13 Parent #2 -/. g.20189241T>C - Siti Aishah Zainal et al. (2012), dbSNP, ClinVar GJB2_000005 rs2274083 6/32 - Nuur Athirah Binti Mohd Daud GJB2 - NM_004004.6:c.341A>G - r.(?) p.(Glu114Gly) - ClinVar
13 Parent #1 +/. g.20189241T>C - Siti Aishah Zainal et al. (2012), dbSNP, ClinVar GJB2_000005 rs2274083 1/32 - Nuur Athirah Binti Mohd Daud GJB2 - NM_004004.6:c.341A>G - r.(?) p.(Glu114Gly) - ClinVar
13 Unknown +/. g.20189323_20189325del - Siti Aishah Zainal et al. (2012) GJB2_000010 - 1/32 - Nuur Athirah Binti Mohd Daud GJB2 - NM_004004.6:c.257_259delCGC - r.(?) p.(Pro87del) - -
13 Parent #1 +/. g.20189473C>T - Siti Aishah Zainal et al. (2012), dbSNP, (OMIM 0023), ClinVar GJB2_000001 rs72474224 6/32 - Nuur Athirah Binti Mohd Daud GJB2 - NM_004004.6:c.109G>A - r.(?) p.(Val37Ile) - ClinVar
13 Both (homozygous) +/. g.20189473C>T - Siti Aishah Zainal et al. (2012), dbSNP, (OMIM 0023), ClinVar GJB2_000001 rs72474224 2/32 - Nuur Athirah Binti Mohd Daud GJB2 - NM_004004.6:c.109G>A - r.(?) p.(Val37Ile) - ClinVar
13 Unknown ?/. g.20189482T>A - Siti Aishah Zainal et al. (2012), dbSNP, ClinVar GJB2_000009 rs564084861 1/32 - Nuur Athirah Binti Mohd Daud GJB2 - NM_004004.6:c.100A>T - r.(?) p.(Met34Leu) - ClinVar
13 Both (homozygous) +/. g.20189487C>T - Siti Aishah Zainal et al. (2012), dbSNP, ClinVar GJB2_000008 rs111033190 1/32 - Nuur Athirah Binti Mohd Daud GJB2 - NM_004004.6:c.95G>A - r.(?) p.(Arg32His) - ClinVar
13 Parent #1 -/. g.20189503C>T - Siti Aishah Zainal et al. (2012), dbSNP, ClinVar GJB2_000004 rs2274084 8/32 - Nuur Athirah Binti Mohd Daud GJB2 - NM_004004.6:c.79G>A - r.(?) p.(Val27Ile) - ClinVar
13 Unknown +/. g.20189511C>T - Siti Aishah Zainal et al. (2012), dbSNP, (OMIM 0003), ClinVar GJB2_000002 rs104894396 2/32 - Nuur Athirah Binti Mohd Daud GJB2 - NM_004004.6:c.71G>A - r.(?) p.(Trp24*) - ClinVar
13 Both (homozygous) +/. g.20189511C>T - Siti Aishah Zainal et al. (2012), dbSNP, (OMIM 0003), ClinVar GJB2_000002 rs104894396 1/32 - Nuur Athirah Binti Mohd Daud GJB2 - NM_004004.6:c.71G>A - r.(?) p.(Trp24*) - ClinVar
13 Unknown ./. g.20189571C>T - Siti Aishah Zainal et al. (2012), dbSNP, ClinVar GJB2_000003 rs111033222 9/32 - Nuur Athirah Binti Mohd Daud GJB2 - NM_004004.6:c.11G>A - r.(?) p.(Gly4Asp) - ClinVar
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