Variant #0000670042 (NC_000009.11:g.133760106C>T, ABL1(NM_007313.2):c.2486C>T)

Individual ID 00305225
Chromosome 9
Allele Both (homozygous)
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.133760106C>T
DNA change (hg38) g.130884719C>T
Published as -
ISCN -
DB-ID ABL1_000035 See all 2 reported entries
Variant remarks no interpretation available; 1 homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs2229071
Origin Germline
Segregation -
Frequency 1/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00541 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABL1 NM_005157.4 ?/. - c.2429C>T r.(?) p.(Pro810Leu)
ABL1 NM_007313.2 ?/. - c.2486C>T r.(?) p.(Pro829Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000306354 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq