Variant #0000444405 (NC_000010.10:g.88439193G>A, LDB3(NM_007078.2):c.163G>A)

Individual ID 00211457
Chromosome 10
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.88439193G>A
DNA change (hg38) g.86679436G>A
Published as GTC>ATC codon 55
ISCN -
DB-ID LDB3_000005 See all 7 reported entries
Variant remarks found in patients and controls
Reference PubMed: Arimura 2004
ClinVar ID -
dbSNP ID rs3740343
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00752 View details
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.163G>A r.(?) p.(Val55Ile)
LDB3 NM_007078.2 -/. 3 c.163G>A r.(?) p.(Val55Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000212533 DNA SEQ;SSCA - - LDB3 1 Johan den Dunnen