Variant #0000444411 (NC_000010.10:g.88432198G>A, LDB3(NM_007078.2):c.93+3657G>A)

Individual ID 00211461
Chromosome 10
Allele Parent #1
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.88432198G>A
DNA change (hg38) g.86672441G>A
Published as -
ISCN -
DB-ID LDB3_000016
Variant remarks -
Reference PubMed: Griggs 2007
ClinVar ID -
dbSNP ID rs10788522
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
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     
LDB3 NM_001080114.1 ./. - c.93+3657G>A r.(=) p.(=)
LDB3 NM_007078.2 -/. 2i c.93+3657G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000212537 DNA SEQ - - LDB3 3 Johan den Dunnen