Variant #0000368992 (NC_000009.11:g.133730311_133730313del, ABL1(NM_007313.2):c.434_436del)

Individual ID 00164461
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.133730311_133730313del
DNA change (hg38) g.130854924_130854926del
Published as -
ISCN -
DB-ID ABL1_000009
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Nereida Bravo Gil
Database submission license No license selected
Created by Nereida Bravo Gil
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABL1 NM_007313.2 ?/. 3 c.434_436del r.(?) p.(Ser145del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165329 DNA SEQ-NG Peripheral blood - - 1 Nereida Bravo Gil