Variant #0000804592 (NC_000010.10:g.88428502G>C, LDB3(NM_007078.2):c.54G>C)

Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.88428502G>C
DNA change (hg38) -
Published as LDB3(NM_001171610.2):c.54G>C (p.Q18H)
ISCN -
DB-ID LDB3_000381
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) Variant not found in online data sets
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LDB3 NM_001080114.1 ?/. - c.54G>C r.(?) p.(Gln18His)
LDB3 NM_007078.2 ?/. - c.54G>C r.(?) p.(Gln18His)
OPN4 NM_033282.3 ?/. - c.*2994G>C r.(=) p.(=)