Individual #00000144

Reference Lu Ping Tan et al. (2007)
Gender -
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases APC
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 2020-11-09 12:19:11 +08:00 (CST)
Date last edited 2020-12-06 14:48:18 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000159 DNA PCR;SEQ APC 14 Nuur Athirah Binti Mohd Daud



Variants

14 entries on 1 page. Showing entries 1 - 14.
Legend   How to query  

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     
5 Unknown +/. g.112815507C>T R283X Lu Ping Tan et al. (2007)dbSNP APC_000008 rs786201856 1/16 - Nuur Athirah Binti Mohd Daud APC 11 NM_000038.5:c.847C>T R283X r.(?) p.(Arg283*) - ClinVar
5 Unknown -/. g.112837578_112837579del 1984-1985delCT Lu Ping Tan et al. (2007) APC_000015 rs587779121 1/16 - Nuur Athirah Binti Mohd Daud APC - NM_000038.5:c.1984_1985del 1984-1985delCT r.(?) p.(Leu662Thrfs*11) - -
5 Unknown ?/. g.112839483_112839484del c.3889-3890delGA Lu Ping Tan et al. (2007) APC_000013 - 1/16 - Nuur Athirah Binti Mohd Daud APC - NM_000038.5:c.3889_3890del c.3889-3890delGA r.(?) p.(Asp1297Phefs*3) - -
5 Unknown +/. g.112839521_112839525del 3927-3931delAAAGA , codon 1309 Lu Ping Tan et al. (2007)dbSNP APC_000009 rs121913224 1/16 - Nuur Athirah Binti Mohd Daud APC 18 NM_000038.5:c.3927_3931del 3927-3931delAAAGA , codon 1309 r.(?) p.(Glu1309Aspfs*4) - ClinVar
5 Unknown ?/. g.112839522_112839523del c.3928-3929delAA Lu Ping Tan et al. (2007) APC_000006 - 1/16 - Nuur Athirah Binti Mohd Daud APC 18 NM_000038.5:c.3928_3929del c.3928-3929delAA r.(?) p.(Lys1310Aspfs*4) - -
5 Unknown ?/. g.112839522_112839523del 3928-3929delAA Lu Ping Tan et al. (2007) APC_000006 - 1/16 - Nuur Athirah Binti Mohd Daud APC - NM_000038.5:c.3928_3929del 3928-3929delAA r.(?) p.(Lys1310Aspfs*4) - -
5 Unknown ?/. g.112839774_112839777delGATA 4180-4183delGATA , codon 1394 Lu Ping Tan et al. (2007) APC_000018 - 1/16 - Nuur Athirah Binti Mohd Daud APC - NM_000038.5:c.4180_4183delGATA 4180-4183delGATA , codon 1394 r.(?) p.(Asp1394Valfs*20) - -
5 Unknown ?/. g.112839776_112839779delTAGT - Lu Ping Tan et al. (2007) APC_000017 - 2/16 - Nuur Athirah Binti Mohd Daud APC - NM_000038.5:c.4182_4185delTAGT - r.(?) p.(Ser1395Leufs*19) - -
5 Unknown ?/. g.112839791_112839801del 4197-4207delTTCGATTGCCA Lu Ping Tan et al. (2007) APC_000011 - 1/16 - Nuur Athirah Binti Mohd Daud APC - NM_000038.5:c.4197_4207del 4197-4207delTTCGATTGCCA r.(?) p.(Ser1400Leufs*5) - -
5 Unknown ?/. g.112839793C>A S1400X Lu Ping Tan et al. (2007) APC_000010 - 1/16 - Nuur Athirah Binti Mohd Daud APC 18 NM_000038.5:c.4199C>A S1400X r.(?) p.(Ser1400*) - -
5 Unknown ?/. g.112839814_112839815insAG - Lu Ping Tan et al. (2007) APC_000016 - 1/16 - Nuur Athirah Binti Mohd Daud APC - NM_000038.5:c.4220_4221insAG - r.(?) p.(Ser1407Argfs*9) - -
5 Unknown +?/. g.112839879C>T Q1429X Lu Ping Tan et al. (2007)dbSNP APC_000007 rs74535574 1/16 - Nuur Athirah Binti Mohd Daud APC - NM_000038.5:c.4285C>T Q1429X r.(?) p.(Gln1429*) - ClinVar
5 Unknown ?/. g.112839942C>T 1450X Lu Ping Tan et al. (2007), dbSNP, ClinVar APC_000012 rs121913332 1/16 - Nuur Athirah Binti Mohd Daud APC 18 NM_000038.5:c.4348C>T 1450X r.(?) p.(Arg1450*) - ClinVar
5 Unknown ?/. g.112839978_112839979del 4384-4385delGA Lu Ping Tan et al. (2007)dbSNP APC_000014 rs1554085846 1/16 - Nuur Athirah Binti Mohd Daud APC 18 NM_000038.5:c.4384_4385del 4384-4385delGA r.(?) p.(Lys1462Glufs*6) - ClinVar
Legend   How to query