Variant #0000261746 (NC_000009.11:g.133760593G>A, ABL1(NM_007313.2):c.2973G>A)

Chromosome 9
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.133760593G>A
DNA change (hg38) g.130885206G>A
Published as ABL1(NM_007313.2):c.2973G>A (p.S991=)
ISCN -
DB-ID ABL1_000006
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0029 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABL1 NM_005157.4 -/. - c.2916G>A r.(?) p.(Ser972=)
ABL1 NM_007313.2 -/. - c.2973G>A r.(?) p.(Ser991=)