Variant #0000001870 (NC_000009.12:g.130872133A>G, NM_005157.5:c.827A>G (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.130872133A>G
Published as D276G
Reference Marjanu Hikmah Elias et al. (2014), dbSNP
DB-ID ABL1_000010
dbSNP ID rs121913447
Frequency 1/28
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 15:18:02 +08:00 (CST)
Date last edited 2021-09-05 14:38:09 +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.827A>G - r.(?) p.(Asp276Gly) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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