Variant #0000656580 (NC_000010.10:g.88428540G>A, LDB3(NM_007078.2):c.92G>A)

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.88428540G>A
DNA change (hg38) g.86668783G>A
Published as -
ISCN -
DB-ID LDB3_000353
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) 1.0E-5 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LDB3 NM_001080114.1 ?/. - c.92G>A r.(?) p.(Arg31Gln)
LDB3 NM_007078.2 ?/. - c.92G>A r.(?) p.(Arg31Gln)
OPN4 NM_033282.3 ?/. - c.*3032G>A r.(=) p.(=)