Variant #0000536551 (NC_000009.11:g.133760364A>C, ABL1(NM_007313.2):c.2744A>C)

Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.133760364A>C
DNA change (hg38) g.130884977A>C
Published as ABL1(NM_007313.2):c.2744A>C (p.K915T)
ISCN -
DB-ID ABL1_000022
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) Variant not found in online data sets
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.2687A>C r.(?) p.(Lys896Thr)
ABL1 NM_007313.2 ?/. - c.2744A>C r.(?) p.(Lys915Thr)