Variant #0000001871 (NC_000009.12:g.130874971G>C, NM_005157.5:c.1189G>C (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.130874971G>C
Published as A397P
Reference Marjanu Hikmah Elias et al. (2014)
DB-ID ABL1_000011
dbSNP ID rs137852281
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 15:25:50 +08:00 (CST)
Date last edited 2021-09-09 11:05:11 +08:00 (CST)
Options




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.1189G>C - r.(?) p.(Ala397Pro) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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