Variant #0000648013 (NC_000010.10:g.88439193G>A, LDB3(NM_007078.2):c.163G>A)

Individual ID 00290156
Chromosome 10
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.88439193G>A
DNA change (hg38) g.86679436G>A
Published as -
ISCN -
DB-ID LDB3_000005 See all 7 reported entries
Variant remarks 51 heterozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs3740343
Origin Germline
Segregation -
Frequency 51/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00752 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     
LDB3 NM_001080114.1 -?/. - c.163G>A r.(?) p.(Val55Ile)
LDB3 NM_007078.2 -?/. - c.163G>A r.(?) p.(Val55Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000291324 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq