Variant #0000536539 (NC_000009.11:g.133710819_133710820insC, ABL1(NM_007313.2):c.137-18632_137-18631insC)

Chromosome 9
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.133710819_133710820insC
DNA change (hg38) g.130835432_130835433insC
Published as ABL1(NM_007313.2):c.137-18632_137-18631insC
ISCN -
DB-ID ABL1_000010
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) 0.99997 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.-15_-14insC r.(?) p.(=)
ABL1 NM_007313.2 -/. - c.137-18632_137-18631insC r.(=) p.(=)