Variant #0000001867 (NC_000009.12:g.130862970T>C, NM_005157.5:c.757T>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.130862970T>C
Published as Y253H
Reference Marjanu Hikmah Elias et al. (2014), dbSNP, (OMIM 0004), ClinVar
DB-ID ABL1_000007
dbSNP ID rs121913461
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 14:44:24 +08:00 (CST)
Date last edited 2021-09-05 14:36:12 +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.757T>C - r.(?) p.(Tyr253His) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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