Variant #0000290932 (NC_000010.10:g.88441379G>T, LDB3(NM_007078.2):c.508G>T)

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.88441379G>T
DNA change (hg38) g.86681622G>T
Published as LDB3(NM_007078.2):c.508G>T (p.A170S)
ISCN -
DB-ID LDB3_000136
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LDB3 NM_001080114.1 -?/. - c.321+1465G>T r.(=) p.(=)
LDB3 NM_007078.2 -?/. - c.508G>T r.(?) p.(Ala170Ser)