Variant #0000001873 (NC_000009.12:g.130872896C>T, NM_005157.5:c.944C>T (ABL1))

Individual ID 00000402
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.130872896C>T
Published as T315I
Reference Yuslina Mat Yusoff et al. (2018), dbSNP, (OMIM 0001), ClinVar
DB-ID ABL1_000002 See all 4 reported entries
dbSNP ID rs121913459
Frequency 9/15
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 15:53:00 +08:00 (CST)
Date last edited 2021-09-05 14:44:41 +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.944C>T - r.(?) p.(Thr315Ile) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000416 DNA PCR ABL1 1 Nuur Athirah Binti Mohd Daud