Variant #0000444397 (NC_000010.10:g.88441437C>T, LDB3(NM_007078.2):c.566C>T)

Individual ID 00211449
Chromosome 10
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.88441437C>T
DNA change (hg38) g.86681680C>T
Published as 587C>T (S196L)
ISCN -
DB-ID LDB3_000009 See all 8 reported entries
Variant remarks not in 400 control chromosomes
Reference PubMed: Vatta 2003, OMIM:var0005
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00066 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.321+1523C>T r.(=) p.(=)
LDB3 NM_007078.2 +/. 5 c.566C>T r.(?) p.(Ser189Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000212525 DNA DHPLC;SEQ - - LDB3 1 Johan den Dunnen