Individual #00000401

Reference Marjanu Hikmah Elias et al. (2014)
Gender -
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases CML
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 2021-02-08 12:52:08 +08:00 (CST)
Date last edited 2021-08-01 14:41:58 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000415 RNA DHPLC;SEQ ABL1 11 Nuur Athirah Binti Mohd Daud



Variants

11 entries on 1 page. Showing entries 1 - 11.
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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     
9 Unknown +/. g.130862962G>A G250E Marjanu Hikmah Elias et al. (2014), dbSNP, ClinVar ABL1_000004 rs121913453 2/28 - Nuur Athirah Binti Mohd Daud ABL1 - NM_005157.5:c.749G>A - r.(?) p.(Gly250Glu) - ClinVar
9 Unknown +/. g.130862970T>C Y253H Marjanu Hikmah Elias et al. (2014), dbSNP, (OMIM 0004), ClinVar ABL1_000007 rs121913461 1/28 - Nuur Athirah Binti Mohd Daud ABL1 - NM_005157.5:c.757T>C - r.(?) p.(Tyr253His) - ClinVar
9 Unknown +/. g.130862976G>A E255K Marjanu Hikmah Elias et al. (2014), dbSNP, ClinVar ABL1_000003 rs121913448 4/28 - Nuur Athirah Binti Mohd Daud ABL1 - NM_005157.5:c.763G>A - r.(?) p.(Glu255Lys) - ClinVar
9 Unknown +/. g.130872133A>G D276G Marjanu Hikmah Elias et al. (2014), dbSNP ABL1_000010 rs121913447 1/28 - Nuur Athirah Binti Mohd Daud ABL1 - NM_005157.5:c.827A>G - r.(?) p.(Asp276Gly) - -
9 Unknown +/. g.130872896C>T T315I Marjanu Hikmah Elias et al. (2014), dbSNP, (OMIM 0001), ClinVar ABL1_000002 rs121913459 9/28 - Nuur Athirah Binti Mohd Daud ABL1 - NM_005157.5:c.944C>T - r.(?) p.(Thr315Ile) - ClinVar
9 Unknown +/. g.130873004T>C M351T Marjanu Hikmah Elias et al. (2014), dbSNP, (OMIM 0006), ClinVar ABL1_000005 rs121913457 2/28 - Nuur Athirah Binti Mohd Daud ABL1 - NM_005157.5:c.1052T>C - r.(?) p.(Met351Thr) - ClinVar
9 Unknown +/. g.130873016A>G E355G Marjanu Hikmah Elias et al. (2014), dbSNP, ClinVar ABL1_000008 rs121913450 1/28 - Nuur Athirah Binti Mohd Daud ABL1 - NM_005157.5:c.1064A>G - r.(?) p.(Glu355Gly) - ClinVar
9 Unknown +/. g.130873028T>G F359C Marjanu Hikmah Elias et al. (2014), dbSNP, ClinVar ABL1_000006 rs1057519775 2/28 - Nuur Athirah Binti Mohd Daud ABL1 - NM_005157.5:c.1076T>G - r.(?) p.(Phe359Cys) - ClinVar
9 Unknown +/. g.130874941T>A L387M Marjanu Hikmah Elias et al. (2014) ABL1_000012 rs2669875 1/28 - Nuur Athirah Binti Mohd Daud ABL1 - NM_005157.5:c.1159T>A - r.(?) p.(Leu387Met) - -
9 Unknown +/. g.130874969A>G H396R Marjanu Hikmah Elias et al. (2014), dbSNP, ClinVar ABL1_000009 rs121913454 1/28 - Nuur Athirah Binti Mohd Daud ABL1 - NM_005157.5:c.1187A>G - r.(?) p.(His396Arg) - -
9 Unknown +/. g.130874971G>C A397P Marjanu Hikmah Elias et al. (2014) ABL1_000011 rs137852281 1/28 - Nuur Athirah Binti Mohd Daud ABL1 - NM_005157.5:c.1189G>C - r.(?) p.(Ala397Pro) - -
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