Variant #0000261745 (NC_000009.11:g.133760380C>G, ABL1(NM_007313.2):c.2760C>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.133760380C>G
DNA change (hg38) g.130884993C>G
Published as ABL1(NM_007313.2):c.2760C>G (p.P920=)
ISCN -
DB-ID ABL1_000005
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) 0.00145 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABL1 NM_005157.4 -?/. - c.2703C>G r.(?) p.(Pro901=)
ABL1 NM_007313.2 -?/. - c.2760C>G r.(?) p.(Pro920=)