Variant #0000001863 (NC_000009.12:g.130862976G>A, NM_005157.5:c.763G>A (ABL1))

Individual ID 00000401
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.130862976G>A
Published as E255K
Reference Marjanu Hikmah Elias et al. (2014), dbSNP, ClinVar
DB-ID ABL1_000003
dbSNP ID rs121913448
Frequency 4/28
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner 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 13:02:44 +08:00 (CST)
Date last edited 2021-09-05 14:37:16 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
ABL1 NM_005157.5 +/. - c.763G>A - r.(?) p.(Glu255Lys) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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