Variant #0000722305 (NC_000009.11:g.133738340A>G, ABL1(NM_007313.2):c.797A>G)

Chromosome 9
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.133738340A>G
DNA change (hg38) -
Published as ABL1(NM_007313.2):c.797A>G (p.K266R)
ISCN -
DB-ID ABL1_000014 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00259 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABL1 NM_005157.4 -?/. - c.740A>G r.(?) p.(Lys247Arg)
ABL1 NM_007313.2 -?/. - c.797A>G r.(?) p.(Lys266Arg)