Variant #0000541162 (NC_000010.10:g.88441223G>A, LDB3(NM_007078.2):c.352G>A)

Chromosome 10
Allele Unknown
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.88441223G>A
DNA change (hg38) g.86681466G>A
Published as LDB3(NM_001080115.1):c.352G>A (p.(Val118Met)), LDB3(NM_001171610.1):c.352G>A (p.V118M), LDB3(NM_001171610.2):c.352G>A (p.V118M)
ISCN -
DB-ID LDB3_000127 See all 6 reported entries
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) 0.0043 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LDB3 NM_001080114.1 -?/. - c.321+1309G>A r.(=) p.(=)
LDB3 NM_007078.2 -?/. - c.352G>A r.(?) p.(Val118Met)